Central diabetes insipidus

Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).

Input patient's signs and symptoms

Narrow down the case reports

Total: 486 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (48.2%)	21274346 (3005673)	Genoa syndrome and central diabetes insipidus: a case report. Hachamdioglu B, klar Z, Savas Erdeve , Berberoglu M, Deda G, Tras ST, Fitoz S, Ocal G. J Clin Res Pediatr Endocrinol. 2010;2(2):89-91. [ Show abstract ] [ Hide abstract ]
		Hypothyroidism Small hand
		GH1

		Central Diabetes Insipidus Cleft Palate Craniosynostosis Holoprosencephaly Homo sapiens Infant Male Nose Syndrome
2 (45.9%)	18079312	Holoprosencephaly and diabetes insipidus in a 3-month-old infant. Kourti M, Pavlou E, Rousso I, Economou I, Athanassiadou F. J Child Neurol. 2008;23(1):118-20. [ Show abstract ] [ Hide abstract ]
		Microcephaly Cleft lip


		Brain Cleft Palate Comorbidity Diabetes Insipidus Differential Diagnosis Eye Abnormalities Holoprosencephaly Homo sapiens Infant Magnetic Resonance Imaging Male Microcephaly Osmolarity Vasopressins
3 (41.7%)	22087457	(18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease. Asabella AN, Cimmino A, Altini C, Notaristefano A, Rubini G. Hell J Nucl Med. 2011;14(3):311-2. [ Show abstract ] [ Hide abstract ]
		Xanthelasma Bone pain
		CD1A

		Erdheim-Chester Disease Homo sapiens Multimodal Imaging Positron-Emission Tomography Radiopharmaceuticals X-Ray Computed Tomography
4 (40.9%)	11036878	Multifocal fibrosclerosis as a possible cause of panhypopituitarism with central diabetes insipidus. Kishimoto M, Okimura Y, Kimura K, Mizuno I, Iguchi G, Fumoto M, Takahashi Y, Kanda F, Kaji H, Abe H, Hanioka K, Chihara K. Endocr J. 2000;47(3):335-42. [ Show abstract ] [ Hide abstract ]
		Sinusitis


		Diabetes Insipidus Fibrosis Headache Homo sapiens Hypopituitarism Male Middle Aged Sclerosis Sinusitis
4 (40.9%)	9059067	[Acute myeloid leukemia with monosomy 7 accompanied by central diabetes insipidus]. Kawano C, Muroi K, Kubota N, Takatoku M, Suzuk T, Tsunoda J, Mano H, Hatake K, Miura Y. Rinsho Ketsueki. 1997;38(2):129-34. [ Show abstract ] [ Hide abstract ]
		Sinusitis
		ANPEP CD33 CD44 ICAM1 ITGAL ITGAM NCAM1

		Adult Chromosomes, Human, Pair 7 Diabetes Insipidus Females Homo sapiens Leukemia, Myelocytic, Acute Monosomy
6 (39.0%)	28883880 (5582363)	Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects. Rai B, Sharif F. Iran J Child Neurol. 2017;11(3):61-65. [ Show abstract ] [ Hide abstract ]
		Microcephaly



6 (39.0%)	1606403	Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome. Van Maldergem L, Gillerot Y, Vamos E, Toppet M, Watillon P, Van Vliet G. Acta Paediatr. 1992;81(4):365-7. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		AVP GH1

		Cleft Palate Congenital Hand Deformities Deficiency Diseases Diabetes Insipidus Ectodermal Dysplasia Growth Hormone Holoprosencephaly Homo sapiens Hypogonadism Infant, Newborn Male Microcephaly Vasopressins
8 (38.2%)	24706429	Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. Tasdemir S, Sahin I, Cayr A, Doneray H, Solomon BD, Muenke M, Yuce I, Tatar A. J Pediatr Endocrinol Metab. 2014;27(7-8):777-81. [ Show abstract ] [ Hide abstract ]
		Anteverted nares Upslanted palpebral fissure Deep philtrum
		GLI2 ZIC2
		p\|FS\|Q\|364\|L\|2;RS#:397515500
		Central Diabetes Insipidus Child, Preschool Holoprosencephaly Homo sapiens Hypopituitarism Infant Male Nuclear Proteins
9 (35.3%)	25224140	Autoimmune lymphocytic hypophysitis in association with autoimmune eye disease and sequential treatment with infliximab and rituximab. Xu C, Ricciuti A, Caturegli P, Keene CD, Kargi AY. Pituitary. 2015;18(4):441-7. [ Show abstract ] [ Hide abstract ]
		Facial palsy
		KRT20 TNF

		Autoimmune Diseases Autoimmune Hypophysitis Central Diabetes Insipidus Females Homo sapiens Hypopituitarism Immunologic Factors Magnetic Resonance Imaging Middle Aged Scleritis Uveitis
9 (35.3%)	17058090	Germinoma located in the basal ganglia in an 8-year-old girl. Klein O, Voirin J, Civit T, Auque J, Marchal JC. Childs Nerv Syst. 2007;23(1):105-8. [ Show abstract ] [ Hide abstract ]
		Facial palsy


		Antineoplastic Agents Asthenia Basal Ganglia Brain Neoplasms Child Combined Modality Therapy Diabetes Insipidus Differential Diagnosis Females Germinoma Glioma Homo sapiens Immunohistochemistry Magnetic Resonance Imaging Vomiting X-Ray Computed Tomography

Phenotype(s) retrieved from Orphanet

Total: 17

HPO ID	Term	Frequency
HP:0000017	Nocturia	Very frequent (99-80%)
HP:0000873	Diabetes insipidus	Very frequent (99-80%)
HP:0001508	Failure to thrive	Very frequent (99-80%)
HP:0001824	Weight loss	Very frequent (99-80%)
HP:0001944	Dehydration	Very frequent (99-80%)
HP:0001959	Polydipsia	Very frequent (99-80%)
HP:0002039	Anorexia	Very frequent (99-80%)
HP:0000716	Depressivity	Frequent (79-30%)
HP:0000739	Anxiety	Frequent (79-30%)
HP:0001254	Lethargy	Frequent (79-30%)
HP:0001262	Excessive daytime somnolence	Frequent (79-30%)
HP:0001945	Fever	Frequent (79-30%)
HP:0002315	Headache	Frequent (79-30%)
HP:0001250	Seizures	Occasional (29-5%)
HP:0002014	Diarrhea	Occasional (29-5%)
HP:0002017	Nausea and vomiting	Occasional (29-5%)
HP:0002902	Hyponatremia	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 122

HPO ID	Term	# of case reports
HP:0000103	Polyuria	34
HP:0040075	Hypopituitarism	25
HP:0001959	Polydipsia	19
HP:0003228	Hypernatremia	19
HP:0002902	Hyponatremia	13
HP:0000819	Diabetes mellitus	11
HP:0000821	Hypothyroidism	10
HP:0001944	Dehydration	9
HP:0100620	Germinoma	9
HP:0000135	Hypogonadism	8
HP:0000873	Diabetes insipidus	8
HP:0000824	Growth hormone deficiency	7
HP:0002955	Granulomatosis	6
HP:0000238	Hydrocephalus	5
HP:0000805	Enuresis	5
HP:0000846	Adrenal insufficiency	4
HP:0001250	Seizures	4
HP:0001287	Meningitis	4
HP:0002045	Hypothermia	4
HP:0002315	Headache	4
HP:0011787	Central hypothyroidism	4
HP:0000648	Optic atrophy	3
HP:0000830	Anterior hypopituitarism	3
HP:0000832	Primary hypothyroidism	3
HP:0001251	Ataxia	3
HP:0002090	Pneumonia	3
HP:0003158	Hyposthenuria	3
HP:0006543	Cardiorespiratory arrest	3
HP:0000017	Nocturia	2
HP:0000044	Hypogonadotrophic hypogonadism	2
HP:0000822	Hypertension	2
HP:0000829	Hypoparathyroidism	2
HP:0000836	Hyperthyroidism	2
HP:0000969	Edema	2
HP:0001513	Obesity	2
HP:0001662	Bradycardia	2
HP:0001909	Leukemia	2
HP:0001945	Fever	2
HP:0002170	Intracranial hemorrhage	2
HP:0002516	Increased intracranial pressure	2
HP:0002615	Hypotension	2
HP:0002650	Scoliosis	2
HP:0002791	Hypoventilation	2
HP:0002835	Aspiration	2
HP:0005200	Retroperitoneal fibrosis	2
HP:0008213	Gonadotropin deficiency	2
HP:0008237	Hypothalamic hypothyroidism	2
HP:0011734	Central adrenal insufficiency	2
HP:0030078	Lung adenocarcinoma	2
HP:0030746	Intraventricular hemorrhage	2
HP:0031218	Inappropriate antidiuretic hormone secretion	2
HP:0032160	Cryptococcal meningitis	2
HP:0100646	Thyroiditis	2
HP:0100727	Histiocytosis	2
HP:0100758	Gangrene	2
HP:0000020	Urinary incontinence	1
HP:0000100	Nephrotic syndrome	1
HP:0000126	Hydronephrosis	1
HP:0000127	Renal salt wasting	1
HP:0000141	Amenorrhea	1
HP:0000246	Sinusitis	1
HP:0000252	Microcephaly	1
HP:0000618	Blindness	1
HP:0000639	Nystagmus	1
HP:0000718	Aggressive behavior	1
HP:0000855	Insulin resistance	1
HP:0000859	Hyperaldosteronism	1
HP:0000869	Secondary amenorrhea	1
HP:0000939	Osteoporosis	1
HP:0001045	Vitiligo	1
HP:0001249	Intellectual disability	1
HP:0001254	Lethargy	1
HP:0001297	Stroke	1
HP:0001370	Rheumatoid arthritis	1
HP:0001433	Hepatosplenomegaly	1
HP:0001508	Failure to thrive	1
HP:0001655	Patent foramen ovale	1
HP:0001695	Cardiac arrest	1
HP:0001903	Anemia	1
HP:0001947	Renal tubular acidosis	1
HP:0001953	Diabetic ketoacidosis	1
HP:0002013	Vomiting	1
HP:0002018	Nausea	1
HP:0002039	Anorexia	1
HP:0002107	Pneumothorax	1
HP:0002133	Status epilepticus	1
HP:0002140	Ischemic stroke	1
HP:0002181	Cerebral edema	1
HP:0002488	Acute leukemia	1
HP:0002621	Atherosclerosis	1
HP:0002664	Neoplasm	1
HP:0002863	Myelodysplasia	1
HP:0002878	Respiratory failure	1
HP:0003077	Hyperlipidemia	1
HP:0005268	Spontaneous abortion	1
HP:0005521	Disseminated intravascular coagulation	1
HP:0007018	Attention deficit hyperactivity disorder	1
HP:0010628	Facial palsy	1
HP:0010749	Blepharochalasis	1
HP:0011344	Severe global developmental delay	1
HP:0011477	Upbeat nystagmus	1
HP:0012231	Exudative retinal detachment	1
HP:0012324	Myeloid leukemia	1
HP:0012411	Premature pubarche	1
HP:0012883	Fallopian tube cyst	1
HP:0025011	Pyriform aperture stenosis	1
HP:0025402	Square-wave jerks	1
HP:0025406	Asthenia	1
HP:0025615	Abscess	1
HP:0030065	Primitive neuroectodermal tumor	1
HP:0030084	Clinodactyly	1
HP:0030357	Small cell lung carcinoma	1
HP:0030766	Ear pain	1
HP:0031002	Neuritis	1
HP:0031273	Shock	1
HP:0031274	Hypovolemic shock	1
HP:0032159	Fungal meningitis	1
HP:0040270	Impaired glucose tolerance	1
HP:0100259	Postaxial polydactyly	1
HP:0100532	Scleritis	1
HP:0100582	Nasal polyposis	1
HP:0100614	Myositis	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID