CHILD
MCID: CNG184
MIFTS: 52

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal 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 58 26 76 74
Child Syndrome 58 54 26 60 30 13 56 6 41
Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs 58 26
Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects 54 38
Congenital Hemidysplasia with Ichthyosiform Nevus and Limbs Defects 60
Ichthyosis, Child Syndrome 54
Child Nevus 60
Child 76

Characteristics:

Orphanet epidemiological data:

60
child syndrome
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
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:

33
congenital hemidysplasia with ichthyosiform erythroderma and limb defects:
Mortality/Aging stillbirth
Inheritance heterogeneous x-linked dominant inheritance


Classifications:



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

NIH Rare Diseases : 54 CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, 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 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.

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 Terpenoid backbone biosynthesis. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and brain, and related phenotypes are congenital ichthyosiform erythroderma and epiphyseal stippling

Genetics Home Reference : 26 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.

OMIM : 58 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 (300275), an X-linked recessive mental retardation syndrome, is an allelic disorder with a less severe phenotype. (308050)

UniProtKB/Swiss-Prot : 76 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 : 77 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 all 33)
# Related Disease Score Top Affiliating Genes
1 greenberg dysplasia 10.8
2 smith-lemli-opitz syndrome 10.8
3 ck syndrome 10.8
4 chondrodysplasia punctata 2, x-linked dominant 9.5 EBP NSDHL
5 syphilis 9.5
6 congenital syphilis 9.5
7 myositis 9.3
8 nevus, epidermal 9.3
9 ascites, chylous 9.3
10 glaucoma 3, primary congenital, a 9.3
11 lymphoma, hodgkin, classic 9.3
12 neural tube defects, folate-sensitive 9.3
13 lymphoma, non-hodgkin, familial 9.3
14 skin disease 9.3
15 munchausen by proxy 9.3
16 lymphoma 9.3
17 pelvic inflammatory disease 9.3
18 rickets 9.3
19 multiple personality disorder 9.3
20 reye syndrome 9.3
21 squamous cell carcinoma 9.3
22 factitious disorder 9.3
23 epilepsy 9.3
24 melanoma 9.3
25 factor xiii deficiency 9.3
26 thrombocytosis 9.3
27 cellulitis 9.3
28 pancreatitis 9.3
29 psoriasis 9.3
30 peroxisomal disease 9.3
31 ritter's disease 9.3
32 peroxisome disorders 9.3
33 head injury 9.3

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:

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

Symptoms via clinical synopsis from OMIM:

58
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

Cardiovascular Heart:
septal defects
single ventricle
single coronary ostium

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

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

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

Head And Neck Ears:
hearing loss

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

Skin Nails Hair Nails:
onychorrhexis
destruction of nails

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

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):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4,Phase 2
2 Hormone Antagonists Phase 4,Phase 2
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
4
Daunorubicin Approved Phase 3,Phase 2 20830-81-3 30323
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Cytarabine Approved, Experimental, Investigational Phase 3,Phase 2 147-94-4, 65-46-3 6253
7
Thioguanine Approved Phase 3 154-42-7 2723601
8 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
9 Immunologic Factors Phase 3,Phase 2
10 Antimetabolites, Antineoplastic Phase 3,Phase 2
11 Topoisomerase Inhibitors Phase 3,Phase 2
12 Antibiotics, Antitubercular Phase 3,Phase 2
13 Aspartic Acid Phase 3,Phase 2
14 Antimetabolites Phase 3,Phase 2
15 Etoposide phosphate Phase 3
16 Anti-Infective Agents Phase 3,Phase 2
17 Immunosuppressive Agents Phase 3,Phase 2
18 N-Methylaspartate Phase 3,Phase 2
19 Anti-Bacterial Agents Phase 3,Phase 2
20 Antiviral Agents Phase 3,Phase 2
21
asparaginase Phase 3,Phase 2
22
Sertraline Approved Phase 2 79617-96-2 68617
23
Epirubicin Approved Phase 2 56420-45-2 41867
24
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
25
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
26
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
27
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
28
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
29
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
30
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
31
Mercaptopurine Approved Phase 2 50-44-2 667490
32
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
33
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
34
leucovorin Approved Phase 2 58-05-9 6006 143
35
Mecasermin Approved, Investigational Phase 2 68562-41-4
36
Zinc Approved, Investigational Phase 2 7440-66-6 32051
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
38
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
39 Antidepressive Agents Phase 2
40 Neurotransmitter Uptake Inhibitors Phase 2
41 Serotonin Agents Phase 2
42 Serotonin Uptake Inhibitors Phase 2
43 Neurotransmitter Agents Phase 2
44 Psychotropic Drugs Phase 2
45 Insulin, Globin Zinc Phase 2,Not Applicable
46 insulin Phase 2,Not Applicable
47 Hypoglycemic Agents Phase 2,Not Applicable
48 Vitamin B Complex Phase 2
49 Hydrocortisone-17-butyrate Phase 2
50 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
2 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
3 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
4 ASIA Down Syndrome Acute Lymphoblastic Leukemia 2016 Recruiting NCT03286634 Phase 2 Daunorubicin;Prednisolone;Vincristine;Epirubicin;E-coli L-asparaginase;6-Mercaptopurine;Methotrexate;Hydrocortisone;Cytarabine;Cyclophosphamide
5 Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome Terminated NCT00351221 Phase 2 rhIGF-1/rhIGFBP-3
6 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
7 Treatment of Steroid Dependent Idiopathic Nephrotic Syndrome in Children With Low Doses of Interleukin 2: a Pilot Study Withdrawn NCT02997150 Phase 2 IL-2 Low dose
8 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316 Not Applicable
9 Obstructive Sleep Apnea and Down Syndrome: Clinical Examination Issue Completed NCT02732431 Not Applicable
10 Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome Completed NCT00705172 somatropin
11 The Clinic Treatment Project Completed NCT01178554 Not Applicable
12 Correlation Between Optic Nerve Vessel Anomalies, Serum Angiogenic Factors and Renal Anomalies in Down Syndrome Children Recruiting NCT03206957 Not Applicable
13 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
14 Reliability and Validity of a Computerized Tool to Assess Proprioception and Motor Planning Among Children With Coordination Disorders Recruiting NCT03285776
15 Prevalence of Constitutional Mismatch-repair Deficiency Among Suspected Neurofibromatosis Type 1/Legius Syndrome Children Without a Malignancy and Without a NF1 or SPRED1 Mutation Not yet recruiting NCT03757247
16 Genetic Causes and Clinical Features of Childhood Interstitial Lung Diseases in China Not yet recruiting NCT03869515
17 Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome Not yet recruiting NCT03903666 Not Applicable

Search NIH Clinical Center for 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 30 NSDHL

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

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

42
Skin, Lung, Brain, Kidney, Heart, Thyroid, Bone

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 247)
# Title Authors Year
1
CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol. ( 29341259 )
2018
2
CHILD syndrome: A modified pathogenesis-targeted therapeutic approach. ( 29392821 )
2018
3
Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy. ( 29687057 )
2018
4
Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears. ( 30456274 )
2018
5
Hyperactive Child Syndrome and Estimated Life Expectancy at Young Adult Follow-Up: The Role of ADHD Persistence and Other Potential Predictors. ( 30526189 )
2018
6
Battered child syndrome in the records of the Department of Forensic Medicine, Medical University of Białystok. ( 29460607 )
2017
7
[Battered child syndrome: clinical and radiological aspects]. ( 27642408 )
2016
8
Only child syndrome in snakes: Eggs incubated alone produce asocial individuals. ( 27761007 )
2016
9
CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment-A Case Report. ( 25845514 )
2015
10
Battered Child Syndrome; a Case Study. ( 26495388 )
2015
11
Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy. ( 25587692 )
2015
12
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation. ( 26459993 )
2015
13
'The bones tell a story the child is too young or too frightened to tell': The Battered Child Syndrome in Post-war Britain and America. ( 26516299 )
2015
14
Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome. ( 26014843 )
2015
15
CHILD syndrome with minimal limb abnormalities. ( 26611379 )
2015
16
CHILD Syndrome: Effective Treatment of Ichthyosiform Naevus with Oral and Topical Ketoconazole. ( 24696032 )
2014
17
CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis. ( 25093865 )
2014
18
CHILD syndrome. ( 25201868 )
2014
19
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome. ( 24060582 )
2014
20
Significance of platelet function diagnostics for clarification of suspected battered child syndrome. ( 25382772 )
2014
21
CHILD syndrome without hemidysplasia. ( 25533639 )
2014
22
A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects. ( 22471832 )
2013
23
Small intestinal mucosal xanthoma in a patient with CHILD syndrome. ( 23969275 )
2013
24
Multiple Verruciform Xanthomas in the Setting of Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Syndrome. ( 24147604 )
2013
25
&amp;quot;The battered-child syndrome&amp;quot; 50 years later: much accomplished, much left to do. ( 22760286 )
2012
26
Vulnerable child syndrome, parental perception of child vulnerability, and emergency department usage. ( 22068058 )
2011
27
Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome. ( 20796237 )
2010
28
'Munchausen syndrome by proxy' presenting as battered child syndrome: a report of two cases. ( 20618475 )
2010
29
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. ( 19906044 )
2010
30
Optic nerve findings in CHILD syndrome. ( 20886807 )
2010
31
Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. ( 20605772 )
2010
32
CHILD syndrome vs. unilateral psoriasis. ( 20618511 )
2010
33
CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. ( 20804683 )
2010
34
Mild phenotypic expression of CHILD syndrome in two generations. ( 19614651 )
2009
35
Parenting style and the vulnerable child syndrome. ( 19930304 )
2009
36
The vulnerable child syndrome. ( 19411339 )
2009
37
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing. ( 18764845 )
2008
38
[Atypical staphylococcal scalded skin syndrome: it could be battered child syndrome]. ( 18610724 )
2008
39
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. ( 18825599 )
2008
40
Complete distal humeral epiphyseal separation indicating a battered child syndrome: a case report. ( 17965868 )
2008
41
Bruises, blood coagulation tests and the battered child syndrome. ( 18581014 )
2008
42
CHILD syndrome: clinical picture and diagnostic procedures. ( 17448011 )
2007
43
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. ( 16549711 )
2006
44
Findings in older children with abusive head injury: does shaken-child syndrome exist? ( 16651283 )
2006
45
Squamous cell carcinoma arising in CHILD syndrome. ( 16503894 )
2006
46
Stiff child syndrome with mutation of DYT1 gene. ( 16682692 )
2006
47
Abnormal lamellar granules in a case of CHILD syndrome. ( 16776722 )
2006
48
Treatment of dissociative identity disorder: "tortured child syndrome". ( 16789866 )
2006
49
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. ( 16088165 )
2005
50
Stiff child syndrome with mutation of DYT1 gene. ( 16275837 )
2005

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

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

76
# 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

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

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSDHL NM_015922.2(NSDHL): c.595C> T (p.Arg199Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587784223 GRCh37 Chromosome X, 152034414: 152034414
2 NSDHL NM_015922.2(NSDHL): c.595C> T (p.Arg199Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs587784223 GRCh38 Chromosome X, 152865870: 152865870
3 NSDHL NM_015922.2(NSDHL): c.727G> A (p.Val243Met) single nucleotide variant Conflicting interpretations of pathogenicity rs587784224 GRCh37 Chromosome X, 152036155: 152036155
4 NSDHL NM_015922.2(NSDHL): c.727G> A (p.Val243Met) single nucleotide variant Conflicting interpretations of pathogenicity rs587784224 GRCh38 Chromosome X, 152867611: 152867611
5 NSDHL NM_015922.2(NSDHL): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic rs141571609 GRCh37 Chromosome X, 152036185: 152036185
6 NSDHL NM_015922.2(NSDHL): c.757C> T (p.Gln253Ter) single nucleotide variant Pathogenic rs141571609 GRCh38 Chromosome X, 152867641: 152867641
7 NSDHL NM_001129765.1(NSDHL): c.904delT (p.Tyr302Thrfs) deletion Pathogenic rs587784225 GRCh37 Chromosome X, 152037442: 152037442
8 NSDHL NM_001129765.1(NSDHL): c.904delT (p.Tyr302Thrfs) deletion Pathogenic rs587784225 GRCh38 Chromosome X, 152868898: 152868898
9 NSDHL NM_015922.2(NSDHL): c.906C> A (p.Tyr302Ter) single nucleotide variant Pathogenic rs587784226 GRCh37 Chromosome X, 152037444: 152037444
10 NSDHL NM_015922.2(NSDHL): c.906C> A (p.Tyr302Ter) single nucleotide variant Pathogenic rs587784226 GRCh38 Chromosome X, 152868900: 152868900
11 NSDHL NM_001129765.1(NSDHL): c.1114delG (p.Val372Serfs) deletion Likely pathogenic rs587784222 GRCh37 Chromosome X, 152037652: 152037652
12 NSDHL NM_001129765.1(NSDHL): c.1114delG (p.Val372Serfs) deletion Likely pathogenic rs587784222 GRCh38 Chromosome X, 152869108: 152869108
13 NSDHL NM_001129765.1(NSDHL): c.1038_1041dup (p.Gly348Hisfs) duplication Pathogenic rs797045835 GRCh38 Chromosome X, 152869032: 152869035
14 NSDHL NM_001129765.1(NSDHL): c.1038_1041dup (p.Gly348Hisfs) duplication Pathogenic rs797045835 GRCh37 Chromosome X, 152037576: 152037579
15 NSDHL NM_001129765.1(NSDHL): c.314C> T (p.Ala105Val) single nucleotide variant Pathogenic rs104894909 GRCh37 Chromosome X, 152027360: 152027360
16 NSDHL NM_001129765.1(NSDHL): c.314C> T (p.Ala105Val) single nucleotide variant Pathogenic rs104894909 GRCh38 Chromosome X, 152858816: 152858816
17 NSDHL NM_001129765.1(NSDHL): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs104894901 GRCh37 Chromosome X, 152034432: 152034432
18 NSDHL NM_001129765.1(NSDHL): c.613G> A (p.Gly205Ser) single nucleotide variant Pathogenic rs104894901 GRCh38 Chromosome X, 152865888: 152865888
19 NSDHL NM_001129765.1(NSDHL): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs104894902 GRCh37 Chromosome X, 152034447: 152034447
20 NSDHL NM_001129765.1(NSDHL): c.628C> T (p.Gln210Ter) single nucleotide variant Pathogenic rs104894902 GRCh38 Chromosome X, 152865903: 152865903
21 NSDHL NM_001129765.1(NSDHL): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs104894903 GRCh37 Chromosome X, 152018962: 152018962
22 NSDHL NM_001129765.1(NSDHL): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs104894903 GRCh38 Chromosome X, 152850418: 152850418
23 NSDHL NM_001129765.1(NSDHL): c.544G> C (p.Ala182Pro) single nucleotide variant Pathogenic rs104894904 GRCh37 Chromosome X, 152034363: 152034363
24 NSDHL NM_001129765.1(NSDHL): c.544G> C (p.Ala182Pro) single nucleotide variant Pathogenic rs104894904 GRCh38 Chromosome X, 152865819: 152865819
25 NSDHL NM_001129765.1(NSDHL): c.451G> T (p.Glu151Ter) single nucleotide variant Pathogenic rs104894905 GRCh37 Chromosome X, 152031176: 152031176
26 NSDHL NM_001129765.1(NSDHL): c.451G> T (p.Glu151Ter) single nucleotide variant Pathogenic rs104894905 GRCh38 Chromosome X, 152862632: 152862632
27 NSDHL NM_001129765.1(NSDHL): c.1046A> G (p.Tyr349Cys) single nucleotide variant Pathogenic rs137853863 GRCh37 Chromosome X, 152037584: 152037584
28 NSDHL NM_001129765.1(NSDHL): c.1046A> G (p.Tyr349Cys) single nucleotide variant Pathogenic rs137853863 GRCh38 Chromosome X, 152869040: 152869040
29 NSDHL NM_001129765.1(NSDHL): c.370G> A (p.Gly124Ser) single nucleotide variant Pathogenic rs137853862 GRCh37 Chromosome X, 152027416: 152027416
30 NSDHL NM_001129765.1(NSDHL): c.370G> A (p.Gly124Ser) single nucleotide variant Pathogenic rs137853862 GRCh38 Chromosome X, 152858872: 152858872

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:

38
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.68 EBP NSDHL

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 endoplasmic reticulum membrane GO:0005789 8.62 EBP NSDHL

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.37 EBP NSDHL
2 steroid metabolic process GO:0008202 9.32 EBP NSDHL
3 cholesterol metabolic process GO:0008203 9.26 EBP NSDHL
4 steroid biosynthetic process GO:0006694 9.16 EBP NSDHL
5 cholesterol biosynthetic process GO:0006695 8.96 EBP NSDHL
6 sterol biosynthetic process GO:0016126 8.62 EBP NSDHL

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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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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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