CHILD
MCID: CNG184
MIFTS: 56

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

MalaCards integrated aliases for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

Name: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 57 43 72 44 70
Child Syndrome 57 12 20 43 58 29 13 54 6 15 39
Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs 57 43
Congenital Hemidysplasia with Ichthyosiform Nevus and Limbs Defects 12 58
Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects 20 36
Child Nevus 12 58
Ichthyosis, Child Syndrome 20
Child 72

Characteristics:

Orphanet epidemiological data:

58
child syndrome
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
genetic heterogeneity
child is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects
right side affected greater than left side
left side involvement associated with serious cardiac defect

Inheritance:
x-linked dominant


HPO:

31
congenital hemidysplasia with ichthyosiform erythroderma and limb defects:
Onset and clinical course stillbirth
Inheritance heterogeneous x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

MedlinePlus Genetics : 43 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life.CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities.Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.

MalaCards based summary : Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects, also known as child syndrome, is related to greenberg dysplasia and smith-lemli-opitz syndrome. An important gene associated with Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), and among its related pathways/superpathways are Steroid biosynthesis and Metabolism. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and thyroid, and related phenotypes are congenital ichthyosiform erythroderma and epiphyseal stippling

Disease Ontology : 12 A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has material basis in heterozygous mutation in NSDHL on chromosome Xq28.

GARD : 20 CHILD syndrome, also known as c ongenital h emidysplasia with i chthyosiform erythroderma and l imb d efects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The symptoms normally occur on one side of the body. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. Several cases in which milder signs and symptoms have been reported in the medical literature. The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females. CHILD syndrome is diagnosed based on the symptoms and through genetic testing. There is no specific treatment for CHILD syndrome, but topical creams that include a cholesterol inhibitor have been reported to improve the skin symptoms in a few patients. CHILD syndrome is very rare and less than 30 cases have been reported in the literature.

OMIM® : 57 CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with ichythyosiform erythrodema and limb defects. The mutations are lethal in hemizygous males (Happle et al., 1980). CK syndrome (300831), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype. (308050) (Updated 20-May-2021)

KEGG : 36 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition.

UniProtKB/Swiss-Prot : 72 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.

Wikipedia : 73 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD... more...

Related Diseases for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Diseases related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 greenberg dysplasia 31.4 MSMO1 EBP DHCR7
2 smith-lemli-opitz syndrome 31.0 SC5D MSMO1 EBP DHCR7 DHCR24
3 ck syndrome 30.8 SC5D NSDHL MSMO1 HSD17B7 EBP CSAG1
4 chondrodysplasia punctata 2, x-linked dominant 29.8 NSDHL EBP
5 chondrodysplasia punctata syndrome 29.8 NSDHL MSMO1 EBP
6 ichthyosis 29.4 NIPAL4 MBTPS2 EBP ALOXE3 ALOX12B ABCA3
7 x-linked chondrodysplasia punctata 2 27.5 SC5D NSDHL MSMO1 MBTPS2 HSD17B7 EBP
8 nevus, epidermal 10.4
9 verruciform xanthoma of skin 10.4
10 nsdhl-related disorders 10.4
11 mend syndrome 10.2 NSDHL EBP
12 antley-bixler syndrome 9.9 MSMO1 EBP
13 ichthyosis, congenital, autosomal recessive 2 9.9 ALOXE3 ALOX12B
14 keratosis 9.9
15 bleeding disorder, platelet-type, 8 9.9 ALOXE3 ALOX12B
16 head injury 9.8
17 acrokeratosis verruciformis 9.8 NIPAL4 ALOX12B ABCA12
18 erythrokeratoderma ''en cocardes'' 9.8
19 epidermolytic hyperkeratosis 9.8 NIPAL4 ALOXE3 ABCA12
20 sjogren-larsson syndrome 9.8
21 hypolipoproteinemia 9.7 ABCA3 ABCA12
22 dystonia 1, torsion, autosomal dominant 9.7
23 skin disease 9.7
24 syphilis 9.7
25 congenital syphilis 9.7
26 alopecia 9.7
27 inflammatory linear verrucous epidermal nevus 9.7
28 encephalopathy 9.7
29 early-onset generalized limb-onset dystonia 9.7
30 amelia 9.7
31 ichthyosis, congenital, autosomal recessive 7 9.6 NIPAL4 ALOXE3 ALOX12B ABCA12
32 ichthyosis, congenital, autosomal recessive 1 9.6 NIPAL4 ALOXE3 ALOX12B ABCA12
33 ichthyosis, x-linked 9.6 NIPAL4 ALOXE3 ALOX12B ABCA12
34 eyelid disease 9.6 NIPAL4 ALOXE3 ALOX12B ABCA12
35 ichthyosis vulgaris 9.6 NIPAL4 ALOXE3 ALOX12B ABCA12
36 alcohol dependence 9.5
37 fibrosis of extraocular muscles, congenital, 1 9.5
38 attention deficit-hyperactivity disorder 9.5
39 myositis 9.5
40 dowling-degos disease 1 9.5
41 retinal detachment 9.5
42 split-hand/foot malformation 1 9.5
43 chromosome 2q35 duplication syndrome 9.5
44 renal hypodysplasia/aplasia 1 9.5
45 ascites, chylous 9.5
46 cystic fibrosis 9.5
47 lymphoma, hodgkin, classic 9.5
48 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.5
49 3-methylglutaconic aciduria, type iii 9.5
50 lymphoma, non-hodgkin, familial 9.5

Graphical network of the top 20 diseases related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:



Diseases related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

Symptoms & Phenotypes for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Human phenotypes related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 congenital ichthyosiform erythroderma 31 obligate (100%) HP:0007431
2 epiphyseal stippling 31 hallmark (90%) HP:0010655
3 aplasia/hypoplasia of the extremities 31 hallmark (90%) HP:0009815
4 abnormality of the nail 31 frequent (33%) HP:0001597
5 hyperkeratosis 31 frequent (33%) HP:0000962
6 parakeratosis 31 frequent (33%) HP:0001036
7 scoliosis 31 occasional (7.5%) HP:0002650
8 hearing impairment 31 occasional (7.5%) HP:0000365
9 short stature 31 occasional (7.5%) HP:0004322
10 flexion contracture 31 occasional (7.5%) HP:0001371
11 micrognathia 31 occasional (7.5%) HP:0000347
12 alopecia 31 occasional (7.5%) HP:0001596
13 renal hypoplasia/aplasia 31 occasional (7.5%) HP:0008678
14 congenital hip dislocation 31 occasional (7.5%) HP:0001374
15 thyroid hypoplasia 31 occasional (7.5%) HP:0005990
16 hypoplastic scapulae 31 occasional (7.5%) HP:0000882
17 short clavicles 31 occasional (7.5%) HP:0000894
18 pulmonary hypoplasia 31 occasional (7.5%) HP:0002089
19 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
20 adrenal hypoplasia 31 occasional (7.5%) HP:0000835
21 short ribs 31 occasional (7.5%) HP:0000773
22 hypoplastic pelvis 31 occasional (7.5%) HP:0008839
23 vertebral hypoplasia 31 occasional (7.5%) HP:0008417
24 elevated 8-dehydrocholesterol 31 occasional (7.5%) HP:0003462
25 elevated 8(9)-cholestenol 31 occasional (7.5%) HP:0003465
26 aplasia/hypoplasia involving the central nervous system 31 occasional (7.5%) HP:0002977
27 umbilical hernia 31 HP:0001537
28 intellectual disability, mild 31 HP:0001256
29 cleft upper lip 31 HP:0000204
30 abnormal cardiac septum morphology 31 HP:0001671
31 hydronephrosis 31 HP:0000126
32 erythema 31 HP:0010783
33 renal agenesis 31 HP:0000104
34 single ventricle 31 HP:0001750
35 mild intrauterine growth retardation 31 HP:0008883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Skin Nails Hair Skin:
hyperkeratosis
unilateral erythema and scaling (present at birth or soon after birth, face is spared)
sharp midline demarcation

Head And Neck Mouth:
cleft lip

Laboratory Abnormalities:
elevated 8-dehydrocholesterol
elevated 8(9)-cholestenol

Neurologic Central Nervous System:
mild mental retardation
ipsilateral brain hypoplasia
ipsilateral cranial nerve hypoplasia

Skin Nails Hair Nails:
onychorrhexis
destruction of nails

Respiratory Lung:
ipsilateral lung hypoplasia

Genitourinary Internal Genitalia Female:
ipsilateral ovarian hypoplasia
ipsilateral fallopian tube hypoplasia

Skeletal Pelvis:
unilateral pelvic hypoplasia

Endocrine Features:
ipsilateral thyroid gland hypoplasia
ipsilateral adrenal gland hypoplasia

Abdomen External Features:
umbilical hernia

Genitourinary Kidneys:
hydronephrosis
ipsilateral renal agenesis

Cardiovascular Heart:
single ventricle
septal defects
single coronary ostium

Head And Neck Ears:
hearing loss

Skeletal Limbs:
joint contractures
unilateral hypomelia (digital hypoplasia to complete limb absence)
elbow webbing
knee webbing
ipsilateral epiphyseal stippling

Growth Other:
mild prenatal growth deficiency

Chest Ribs Sternum Clavicles And Scapulae:
unilateral clavicular, scapular, rib hypoplasia

Skeletal Skull:
ipsilateral mandibular hypoplasia

Skin Nails Hair Hair:
unilateral alopecia

Clinical features from OMIM®:

308050 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ABCA12 ABCA3 ALOXE3 DHCR7 HSD17B7 INSIG1
2 growth/size/body region MP:0005378 10 ABCA12 ABCA3 ALOXE3 DHCR24 DHCR7 EBP
3 homeostasis/metabolism MP:0005376 9.93 ABCA12 ABCA3 ALOX12B ALOXE3 DHCR24 DHCR7
4 embryo MP:0005380 9.87 ABCA12 ABCA3 ALOXE3 DHCR7 EBP HSD17B7
5 craniofacial MP:0005382 9.85 ABCA12 ALOXE3 DHCR7 HSD17B7 INSIG1 SC5D
6 integument MP:0010771 9.61 ABCA12 ALOX12B ALOXE3 DHCR24 EBP INSIG1
7 mortality/aging MP:0010768 9.44 ABCA12 ABCA3 ALOX12B ALOXE3 DHCR24 DHCR7

Drugs & Therapeutics for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Drugs for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin
2 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316

Search NIH Clinical Center for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

Cochrane evidence based reviews: congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Genetic Tests for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Genetic tests related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

# Genetic test Affiliating Genes
1 Child Syndrome 29 NSDHL

Anatomical Context for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

MalaCards organs/tissues related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

40
Skin, Kidney, Thyroid, Adrenal Gland, Colon, Brain, Lung

Publications for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Articles related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

(show top 50) (show all 550)
# Title Authors PMID Year
1
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. 6 57 54 61
12966526 2003
2
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 61 57 54 6
10710235 2000
3
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. 57 6 61
11907515 2002
4
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. 57 61
12668600 2003
5
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. 61 57
10710233 2000
6
CHILD syndrome in a boy. 57 61
8882402 1996
7
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. 61 57
1519936 1992
8
The CHILD syndrome. Histologic and ultrastructural studies. 57 61
3827283 1987
9
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. 57 61
7408908 1980
10
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation. 20 61
26459993 2015
11
X-linked dominant inherited diseases with lethality in hemizygous males. 57
6873941 1983
12
Letter: Half chromatid mutations may explain incontinentia pigmenti in males. 57
1163541 1975
13
Q--congenital hemidysplasia with ichthyosis. 57
4620143 1974
14
Congenital unilateral ichthyosiform erythroderma. 57
5783085 1969
15
Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome. 57
5696317 1968
16
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. 61 54
18825599 2008
17
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. 54 61
17625999 2007
18
A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma. 54 61
16230564 2005
19
Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts. 54 61
15805545 2005
20
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. 54 61
16088165 2005
21
Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. 61 54
15639195 2005
22
CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G. 61
33169834 2021
23
Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data. 61
33514479 2021
24
Mutations in 3β-hydroxysteroid-δ8, δ7-isomerase paradoxically benefit epidermal permeability barrier homeostasis in mice. 61
33205489 2021
25
Perceptions of child vulnerability in first-time mothers who conceived using assisted reproductive technology. 61
33703959 2021
26
Vulnerable child syndrome in everyday paediatric practice: A condition deserving attention and new perspectives. 61
32726476 2021
27
Erosive Tooth Wear, Presence of Parafunctional Habits and Tooth Injuries-Occurrence in a Group of Children and Adolescents Exposed to Domestic Violence. 61
33378467 2020
28
[Diagnosis of complete transphyseal separation of the distal humerus]. 61
33215589 2020
29
Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. 61
33139364 2020
30
NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi. 61
33143176 2020
31
Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent. 61
32886633 2020
32
Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell. 61
32826027 2020
33
Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report. 61
32819291 2020
34
Pig Bite Injury Mimicking as Battered Baby Syndrome Leading to Bilateral Foot Amputation in a Toddler: A Diagnostic Dilemma and a Rare Case Report. 61
33623756 2020
35
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders. 61
32304187 2020
36
An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment. 61
31374135 2020
37
A four-year-old Nigerian boy with battered child syndrome: implications for public health. 61
32537052 2020
38
Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma. 61
31078502 2019
39
Hyperactive Child Syndrome and Estimated Life Expectancy at Young Adult Follow-Up: The Role of ADHD Persistence and Other Potential Predictors. 61
30526189 2019
40
CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion. 61
31365666 2019
41
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. 61
31034146 2019
42
Vulnerable Child Syndrome. 61
31152106 2019
43
CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion. 61
33272544 2019
44
Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears. 61
30456274 2018
45
Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses. 61
30208477 2018
46
CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol. 61
29341259 2018
47
Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy. 61
29687057 2018
48
CHILD syndrome: A modified pathogenesis-targeted therapeutic approach. 61
29392821 2018
49
[Femur shaft fractures in infants should be considered despite no known trauma]. 61
29429478 2018
50
A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. 61
28739597 2017

Variations for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

ClinVar genetic disease variations for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSDHL NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) SNV Pathogenic 159454 rs141571609 GRCh37: X:152036185-152036185
GRCh38: X:152867641-152867641
2 NSDHL NM_015922.3(NSDHL):c.904del (p.Tyr302fs) Deletion Pathogenic 159456 rs587784225 GRCh37: X:152037442-152037442
GRCh38: X:152868898-152868898
3 NSDHL NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) SNV Pathogenic 159457 rs587784226 GRCh37: X:152037444-152037444
GRCh38: X:152868900-152868900
4 NSDHL NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) Duplication Pathogenic 211748 rs797045835 GRCh37: X:152037575-152037576
GRCh38: X:152869031-152869032
5 NSDHL NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) SNV Pathogenic 11431 rs104894905 GRCh37: X:152031176-152031176
GRCh38: X:152862632-152862632
6 NSDHL NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) SNV Pathogenic 11430 rs104894904 GRCh37: X:152034363-152034363
GRCh38: X:152865819-152865819
7 NSDHL NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) SNV Pathogenic 11429 rs104894903 GRCh37: X:152018962-152018962
GRCh38: X:152850418-152850418
8 NSDHL NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) SNV Pathogenic 11428 rs104894902 GRCh37: X:152034447-152034447
GRCh38: X:152865903-152865903
9 NSDHL NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) SNV Pathogenic 11427 rs104894901 GRCh37: X:152034432-152034432
GRCh38: X:152865888-152865888
10 NSDHL NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) SNV Pathogenic 11426 rs104894909 GRCh37: X:152027360-152027360
GRCh38: X:152858816-152858816
11 NSDHL NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) SNV Pathogenic 21265 rs137853863 GRCh37: X:152037584-152037584
GRCh38: X:152869040-152869040
12 NSDHL NM_015922.3(NSDHL):c.370G>A (p.Gly124Ser) SNV Pathogenic 21267 rs137853862 GRCh37: X:152027416-152027416
GRCh38: X:152858872-152858872
13 NSDHL NM_015922.3(NSDHL):c.1114del (p.Val372fs) Deletion Likely pathogenic 159449 rs587784222 GRCh37: X:152037650-152037650
GRCh38: X:152869106-152869106
14 NSDHL NM_015922.3(NSDHL):c.727G>A (p.Val243Met) SNV Likely pathogenic 159453 rs587784224 GRCh37: X:152036155-152036155
GRCh38: X:152867611-152867611
15 NSDHL NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) SNV Likely pathogenic 159452 rs587784223 GRCh37: X:152034414-152034414
GRCh38: X:152865870-152865870
16 NSDHL NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) SNV Likely pathogenic 800901 rs1602937895 GRCh37: X:152027363-152027363
GRCh38: X:152858819-152858819
17 NSDHL NM_015922.3(NSDHL):c.*129C>T SNV Benign 804099 rs145978994 GRCh37: X:152037789-152037789
GRCh38: X:152869245-152869245

UniProtKB/Swiss-Prot genetic disease variations for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects:

72
# Symbol AA change Variation ID SNP ID
1 NSDHL p.Ala105Val VAR_010207 rs104894909
2 NSDHL p.Gly205Ser VAR_010208 rs104894901
3 NSDHL p.Ala182Pro VAR_065289 rs104894904

Expression for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Search GEO for disease gene expression data for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects.

Pathways for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Pathways related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

GO Terms for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

Cellular components related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.13 SC5D NSDHL NIPAL4 MSMO1 MBTPS2 INSIG2
2 integral component of membrane GO:0016021 9.97 SC5D NSDHL NIPAL4 MSMO1 MBTPS2 INSIG2
3 endoplasmic reticulum GO:0005783 9.61 SC5D NSDHL MSMO1 INSIG2 INSIG1 HSD17B7
4 endoplasmic reticulum membrane GO:0005789 9.32 SC5D NSDHL MSMO1 MBTPS2 INSIG2 INSIG1
5 SREBP-SCAP-Insig complex GO:0032937 9.26 INSIG2 INSIG1

Biological processes related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.06 SC5D NSDHL MSMO1 HSD17B7 DHCR7 DHCR24
2 cholesterol metabolic process GO:0008203 9.92 NSDHL MSMO1 MBTPS2 INSIG2 INSIG1 EBP
3 steroid biosynthetic process GO:0006694 9.91 SC5D NSDHL MSMO1 HSD17B7 EBP DHCR7
4 sterol biosynthetic process GO:0016126 9.86 SC5D NSDHL MSMO1 INSIG2 INSIG1 EBP
5 fatty acid metabolic process GO:0006631 9.81 MSMO1 ALOXE3 ALOX12B
6 cholesterol biosynthetic process GO:0006695 9.76 NSDHL MSMO1 INSIG2 INSIG1 HSD17B7 EBP
7 cholesterol biosynthetic process via lathosterol GO:0033490 9.73 SC5D EBP DHCR7 DHCR24
8 cholesterol biosynthetic process via desmosterol GO:0033489 9.71 SC5D EBP DHCR7 DHCR24
9 regulation of cholesterol biosynthetic process GO:0045540 9.69 SC5D MBTPS2 DHCR7
10 arachidonic acid metabolic process GO:0019369 9.65 ALOXE3 ALOX12B
11 establishment of skin barrier GO:0061436 9.65 ALOXE3 ALOX12B ABCA12
12 triglyceride metabolic process GO:0006641 9.64 INSIG2 INSIG1
13 ceramide biosynthetic process GO:0046513 9.63 ALOXE3 ALOX12B
14 xenobiotic transport GO:0042908 9.63 EBP ABCA3
15 sterol metabolic process GO:0016125 9.62 EBP DHCR24
16 lipid biosynthetic process GO:0008610 9.62 SC5D MSMO1
17 linoleic acid metabolic process GO:0043651 9.61 ALOXE3 ALOX12B
18 positive regulation of cholesterol efflux GO:0010875 9.61 ABCA3 ABCA12
19 steroid metabolic process GO:0008202 9.61 SC5D NSDHL MSMO1 MBTPS2 INSIG2 INSIG1
20 middle ear morphogenesis GO:0042474 9.6 INSIG2 INSIG1
21 negative regulation of fatty acid biosynthetic process GO:0045717 9.59 INSIG2 INSIG1
22 lipoxygenase pathway GO:0019372 9.58 ALOXE3 ALOX12B
23 surfactant homeostasis GO:0043129 9.58 ABCA3 ABCA12
24 hepoxilin biosynthetic process GO:0051122 9.57 ALOXE3 ALOX12B
25 SREBP signaling pathway GO:0032933 9.56 INSIG2 INSIG1
26 cranial suture morphogenesis GO:0060363 9.55 INSIG2 INSIG1
27 negative regulation of steroid biosynthetic process GO:0010894 9.54 INSIG2 INSIG1
28 response to sterol depletion GO:0006991 9.52 INSIG2 INSIG1
29 SREBP-SCAP complex retention in endoplasmic reticulum GO:0036316 9.49 INSIG2 INSIG1
30 lipid metabolic process GO:0006629 9.4 SC5D NSDHL MSMO1 MBTPS2 INSIG2 INSIG1

Molecular functions related to Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.54 EBP ALOXE3 ALOX12B
2 lipid transporter activity GO:0005319 9.4 ABCA3 ABCA12
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.32 ALOXE3 ALOX12B
4 oxysterol binding GO:0008142 9.26 INSIG2 INSIG1
5 iron ion binding GO:0005506 9.26 SC5D MSMO1 ALOXE3 ALOX12B
6 oxidoreductase activity GO:0016491 9.23 SC5D NSDHL MSMO1 HSD17B7 DHCR7 DHCR24
7 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor GO:0016628 9.16 DHCR7 DHCR24

Sources for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb...

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
Content
Loading form....