MCID: HYP687
MIFTS: 17

Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

MalaCards integrated aliases for Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy:

Name: Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 56 52
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome 58
Cervical Hypertrichosis Peripheral Neuropathy 52

Characteristics:

Orphanet epidemiological data:

58
cervical hypertrichosis-peripheral neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 239840
UMLS via Orphanet 72 C1855902 C2931676
Orphanet 58 ORPHA2218
MedGen 41 C1855902

Summaries for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2218 Definition Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay . An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy, also known as cervical hypertrichosis-peripheral neuropathy syndrome, is related to peripheral nervous system disease and neuropathy. Affiliated tissues include skin, and related phenotypes are emg abnormality and dandy-walker malformation

More information from OMIM: 239840

Related Diseases for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Diseases related to Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peripheral nervous system disease 10.1
2 neuropathy 10.1

Symptoms & Phenotypes for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Human phenotypes related to Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
2 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
3 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
4 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
5 osteomyelitis 58 31 frequent (33%) Frequent (79-30%) HP:0002754
6 periostitis 58 31 frequent (33%) Frequent (79-30%) HP:0040165
7 sensory neuropathy 31 HP:0000763
8 motor polyneuropathy 31 HP:0007178
9 anterior cervical hypertrichosis 31 HP:0004535

Symptoms via clinical synopsis from OMIM:

56
Misc:
osteomyelitis
painless foot ulcer

Neuro:
peripheral sensory and motor neuropathy

Hair:
hypertrichosis, congenital anterior cervical

Clinical features from OMIM:

239840

Drugs & Therapeutics for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Search Clinical Trials , NIH Clinical Center for Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy

Genetic Tests for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Anatomical Context for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

MalaCards organs/tissues related to Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy:

40
Skin

Publications for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Articles related to Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy:

# Title Authors PMID Year
1
Anterior cervical hypertrichosis versus hairy throat. 56
8281287 1993
2
Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy--a new syndrome? 56
1666396 1991

Variations for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Expression for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Search GEO for disease gene expression data for Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy.

Pathways for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

GO Terms for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

Sources for Hypertrichosis, Congenital Anterior Cervical, with Peripheral...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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