FHEIG
MCID: FCL088
MIFTS: 11

Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome (FHEIG)

Categories: Genetic diseases

Aliases & Classifications for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

MalaCards integrated aliases for Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome:

Name: Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome 58 6
Fheig 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
three unrelated patients have been reported (last curated april 2019)


Classifications:



External Ids:

OMIM 58 618381

Summaries for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

MalaCards based summary : Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome, is also known as fheig. An important gene associated with Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome is KCNK4 (Potassium Two Pore Domain Channel Subfamily K Member 4). Affiliated tissues include eye.

Description from OMIM: 618381

Related Diseases for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

Symptoms & Phenotypes for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
seizures
hyperreflexia
poor speech
enlarged ventricles (in some patients)
thin corpus callosum (in some patients)
more
Skeletal Hands:
brachydactyly
fifth finger clinodactyly

Head And Neck Mouth:
large mouth
gingival hyperplasia
everted upper lip
prominent upper and lower vermilion

Skeletal Pelvis:
hip dysplasia (1 patient)

Head And Neck Eyes:
nystagmus
long eyelashes
synophrys
thick eyebrows
deep-set eyes
more
Head And Neck Face:
smooth philtrum
micrognathia
short philtrum
deep philtrum
bitemporal narrowing
more
Muscle Soft Tissue:
hypotonia

Skin Nails Hair Hair:
hypertrichosis, generalized

Clinical features from OMIM:

618381

Drugs & Therapeutics for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

Search Clinical Trials , NIH Clinical Center for Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome

Genetic Tests for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

Anatomical Context for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

MalaCards organs/tissues related to Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome:

42
Eye

Publications for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

Articles related to Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome:

# Title Authors Year
1
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. ( 30290154 )
2018

Variations for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

ClinVar genetic disease variations for Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNK4 NM_001317090.1(KCNK4): c.515C> A (p.Ala172Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 64297507: 64297507
2 KCNK4 NM_001317090.1(KCNK4): c.515C> A (p.Ala172Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 64064979: 64064979
3 KCNK4 NM_001317090.1(KCNK4): c.730G> C (p.Ala244Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 64065650: 64065650
4 KCNK4 NM_001317090.1(KCNK4): c.730G> C (p.Ala244Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 64298178: 64298178

Expression for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

Search GEO for disease gene expression data for Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome.

Pathways for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

GO Terms for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

Sources for Facial Dysmorphism, Hypertrichosis, Epilepsy,...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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