Noonan syndrome-like disorder with loose anagen hair

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.



Input patient's signs and symptoms


Narrow down the case reports



Total: 10 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 27264673
(5134331)
 A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB.
Am J Med Genet A. 2016;170(9):2237-47.
Macrocephaly
PPP1CB PPP1CC SHOC2 ZHX2
c|SUB|G|146|C c|SUB|G|166|C p|SUB|A|56|P p|SUB|P|49|R rs1114167429 rs886037952
Brain Child Child, Preschool Dandy-Walker Syndrome Diagnostic Imaging Exome Facies Females Genetic Association Studies High-Throughput Nucleotide Sequencing Homo sapiens Loose Anagen Hair Syndrome Male Missense Mutation Noonan Syndrome Phenotype Protein Phosphatase 1 Young Adult ras Proteins
1
(39.0%)		 24458596
 Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A.
Am J Med Genet A. 2014;164A(5):1218-21.
Relative macrocephaly
GH1 IGF1 SHOC2
c|SUB|A|4|G;RS#:267607048 p|SUB|S|2|G;RS#:267607048 rs267607048
Facies Females Growth Charts Homo sapiens Human Growth Hormone Infant Intracellular Signaling Peptides and Proteins Loose Anagen Hair Syndrome Mutation Noonan Syndrome Phenotype Ultrasonography, Prenatal
3
(4.0%)		 30236064
(6148994)
 Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.
Lin CH, Lin WD, Chou IC, Lee IC, Fan HC, Hong SY.
BMC Neurol. 2018;18(1):150.
Intellectual disability
PPP1CB
c|SUB|A|548|C p|SUB|E|183|A
Craniofacial Abnormalities Developmental Disabilities Heterozygote Homo sapiens Infant Infant, Newborn Intellectual Disability Ketogenic Diet Male Mutation Neuroimaging Protein Phosphatase 1 West Syndrome
3
(4.0%)		 29737035
 Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.
Uehara T, Hosogaya N, Matsuo N, Kosaki K.
Am J Med Genet A. 2018;176(7):1662-1666.
Intellectual disability
PTPN11 SHOC2
c|SUB|A|4|G;RS#:267607048(Expired) p|SUB|S|2|G;RS#:267607048(Expired)
Adult Hair Diseases Homo sapiens Intracellular Signaling Peptides and Proteins Lupus Erythematosus, Systemic Male Mutation Noonan Syndrome Phenotype Young Adult
3
(4.0%)		 28680615
(5494382)
 Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
Kane J, Berrebi K, McLean R, Petkiewicz S, Hay B, Martin M, Wiss K.
Clin Case Rep. 2017;5(7):1152-1154.
Trichorrhexis nodosa
DSG4 SHOC2
3
(4.0%)		 26096762
 Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
Takasawa K, Takishima S, Morioka C, Nishioka M, Ohashi H, Aoki Y, Shimohira M, Kashimada K, Morio T.
Am J Med Genet A. 2015;167A(10):2425-9.
Decreased response to growth hormone stimuation test
GH1 IGF1 SHOC2
c|SUB|A|4|G;RS#:267607048
Child, Preschool Drug Administration Schedule Females Gene Expression Regulation Growth Disorders Growth Hormone Heterozygote Homo sapiens Insulin-Like Growth Factor I Intracellular Signaling Peptides and Proteins Loose Anagen Hair Syndrome Mutation Noonan Syndrome
3
(4.0%)		 25331583
 Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.
Baldassarre G, Mussa A, Banaudi E, Rossi C, Tartaglia M, Silengo M, Ferrero GB.
Am J Med Genet A. 2014;164A(12):3120-5.
Postnatal growth retardation
c|SUB|A|4|G;RS#:267607048 p|SUB|S|2|G;RS#:267607048
Congenital Heart Defects Electroencephalography Homo sapiens Intellectual Disability Intracellular Signaling Peptides and Proteins Italy Loose Anagen Hair Syndrome Magnetic Resonance Imaging Male Missense Mutation Noonan Syndrome Phenotype
3
(4.0%)		 24124081
 GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).
Mazzanti L, Tamburrino F, Scarano E, Perri A, Vestrucci B, Guidetti M, Rossi C, Tartaglia M.
Am J Med Genet A. 2013;161A(11):2756-61.
Delayed puberty
GH1 IGF1 SHOC2
Body Height Child Child, Preschool Females Growth Charts Homo sapiens Human Growth Hormone Infant Intracellular Signaling Peptides and Proteins Loose Anagen Hair Syndrome Male Mutation Noonan Syndrome Phenotype Puberty
3
(4.0%)		 22995099
(4231415)
 Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.
Capalbo D, Scala MG, Melis D, Minopoli G, Improda N, Palamaro L, Pignata C, Salerno M.
Ital J Pediatr. 2012;38:48.
Severe short stature
GH1 SHOC2
c|SUB|A|4|G;RS#:267607048 rs267607048
Biological Markers Body Height Child Cognition Disorders Congenital Heart Defects Differential Diagnosis Females Growth Disorders Homo sapiens Intracellular Signaling Peptides and Proteins Loose Anagen Hair Syndrome Missense Mutation Noonan Syndrome Phenotype Syndrome
3
(4.0%)		 22419608
 Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.
Capalbo D, Melis D, De Martino L, Palamaro L, Riccomagno S, Bona G, Cordeddu V, Pignata C, Salerno M.
Am J Med Genet A. 2012;158A(4):856-60.
Severe short stature
GH1 IGF1 SHOC2 STAT5A
c|SUB|A|4|G;RS#:267607048 rs267607048
Child Females Homo sapiens Insulin-Like Growth Factor I Laron Syndrome Loose Anagen Hair Syndrome Noonan Syndrome STAT5 Transcription Factor
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000465 Webbed neck Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002209 Sparse scalp hair Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001639 Hypertrophic cardiomyopathy Frequent (79-30%)
HP:0001642 Pulmonic stenosis Frequent (79-30%)
HP:0002002 Deep philtrum Frequent (79-30%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000174 Abnormal palate morphology Occasional (29-5%)
HP:0000179 Thick lower lip vermilion Occasional (29-5%)
HP:0000233 Thin vermilion border Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000670 Carious teeth Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001231 Abnormal fingernail morphology Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001800 Hypoplastic toenails Occasional (29-5%)
HP:0005108 Abnormality of the intervertebral disk Occasional (29-5%)
HP:0009811 Abnormality of the elbow Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0040169 Loose anagen hair 8
HP:0003510 Severe short stature 2
HP:0004322 Short stature 2
HP:0000824 Growth hormone deficiency 1
HP:0008897 Postnatal growth retardation 1
HP:0009886 Trichorrhexis nodosa 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
PPP1CB protein phosphatase 1 catalytic subunit beta 5500
SHOC2 SHOC2 leucine rich repeat scaffold protein 8036