FHEIG
MCID: FCL088
MIFTS: 24

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 57 29 6
Fheig 57 72
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual and Developmental Delay, and Gingival Overgrowth Syndrome 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 72 Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome: An autosomal dominant syndrome characterized by delayed motor and intellectual development, poor speech, seizures, generalized hypertrichosis and facial dysmorphic features, including hypotonic facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy eyebrows and long eyelashes, low-set ears, short deep philtrum, gingival overgrowth, prominent upper and lower vermilion, and everted upper lip.

MalaCards based summary : Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome, also known as fheig, is related to hypertrichosis and gingival overgrowth. 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, and related phenotypes are hip dysplasia and ventriculomegaly

More information from OMIM: 618381

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

Diseases related to Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrichosis 9.7 KCNK4-TEX40 KCNK4
2 gingival overgrowth 9.7 KCNK4-TEX40 KCNK4
3 seizure disorder 9.6 KCNK4-TEX40 KCNK4
4 alacrima, achalasia, and mental retardation syndrome 9.6 KCNK4-TEX40 KCNK4
5 disease of mental health 9.5 KCNK4-TEX40 KCNK4

Graphical network of the top 20 diseases related to Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome:



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

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

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

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hip dysplasia 31 very rare (1%) HP:0001385
2 ventriculomegaly 31 very rare (1%) HP:0002119
3 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
4 hyperreflexia 31 HP:0001347
5 nystagmus 31 HP:0000639
6 gingival overgrowth 31 HP:0000212
7 smooth philtrum 31 HP:0000319
8 thick eyebrow 31 HP:0000574
9 micrognathia 31 HP:0000347
10 low-set ears 31 HP:0000369
11 motor delay 31 HP:0001270
12 wide mouth 31 HP:0000154
13 brachydactyly 31 HP:0001156
14 clinodactyly of the 5th finger 31 HP:0004209
15 deeply set eye 31 HP:0000490
16 deep philtrum 31 HP:0002002
17 short philtrum 31 HP:0000322
18 everted upper lip vermilion 31 HP:0010803
19 synophrys 31 HP:0000664
20 long eyelashes 31 HP:0000527
21 generalized hypotonia 31 HP:0001290
22 poor speech 31 HP:0002465
23 horizontal eyebrow 31 HP:0011228
24 narrow forehead 31 HP:0000341
25 facial hypotonia 31 HP:0000297
26 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
poor speech
enlarged ventricles (in some patients)
thin corpus callosum (in some patients)
more
Head And Neck Face:
smooth philtrum
micrognathia
deep philtrum
short philtrum
bitemporal narrowing
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
synophrys
long eyelashes
thick eyebrows
deep-set eyes
more
Head And Neck Ears:
low-set ears

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Hair:
hypertrichosis, generalized

Clinical features from OMIM®:

618381 (Updated 20-May-2021)

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,...

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

# Genetic test Affiliating Genes
1 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome 29 KCNK4

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

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

40
Eye

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

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

# Title Authors PMID Year
1
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. 61 57 6
30290154 2018
2
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies. 61
33594261 2021
3
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. 61
32622958 2020
4
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNK4-TEX40 , KCNK4 NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) SNV Pathogenic 560221 rs1565369746 GRCh37: 11:64064979-64064979
GRCh38: 11:64297507-64297507
2 KCNK4-TEX40 , KCNK4 NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro) SNV Pathogenic 560222 rs1189909394 GRCh37: 11:64065650-64065650
GRCh38: 11:64298178-64298178
3 KCNK4-TEX40 , KCNK4 NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) SNV Conflicting interpretations of pathogenicity 930709 GRCh37: 11:64065618-64065618
GRCh38: 11:64298146-64298146
4 KCNK4-TEX40 , KCNK4 NM_033310.3(KCNK4):c.683C>T (p.Ser228Phe) SNV Uncertain significance 930708 GRCh37: 11:64065603-64065603
GRCh38: 11:64298131-64298131

UniProtKB/Swiss-Prot genetic disease variations for Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 KCNK4 p.Ala172Glu VAR_082119
2 KCNK4 p.Ala244Pro VAR_082120

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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