Acrocapitofemoral Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Acrocapitofemoral Dysplasia

MalaCards integrated aliases for Acrocapitofemoral Dysplasia:

Name: Acrocapitofemoral Dysplasia ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷³ ²⁸ ¹² ⁵ ⁴³ ¹⁴ ⁷¹

Acfd ⁵⁷ ¹⁹ ⁷³

Dysplasia, Acrocapitofemoral ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸ ⁵⁷

Age Of Onset:

Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
allelic to brachydactyly, type a1
cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Other specified osteochondrodysplasias

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

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Summaries for Acrocapitofemoral Dysplasia

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.

MalaCards based summary: Acrocapitofemoral Dysplasia, also known as acfd, is related to osteochondrodysplasia and brachydactyly. An important gene associated with Acrocapitofemoral Dysplasia is IHH (Indian Hedgehog Signaling Molecule), and among its related pathways/superpathways are Signal Transduction and ADORA2B mediated anti-inflammatory cytokines production. Affiliated tissues include bone and heart, and related phenotypes are skeletal dysplasia and delayed skeletal maturation

OMIM®: ⁵⁷ Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021). (607778) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has material basis in mutations in the Indian hedgehog homolog gene.

GARD: ¹⁹ A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

Orphanet: ⁵⁸ A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.

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Related Diseases for Acrocapitofemoral Dysplasia

Diseases related to Acrocapitofemoral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)

#	Related Disease	Score	Top Affiliating Genes
1	osteochondrodysplasia	29.6	SHH NPR2 NPPC IHH GDF5
2	brachydactyly	29.5	SHH PTCH1 NPR2 IHH GLI1 GDF5
3	cholera	10.2
4	polydactyly, preaxial ii	10.2	SHH PTCH1
5	vulva basal cell carcinoma	10.2	SHH PTCH1
6	holoprosencephaly 6	10.2	SHH PTCH1
7	pancreas, annular	10.2	SHH IHH
8	holoprosencephaly 7	10.2	PTCH1 DHH
9	large cell medulloblastoma	10.2	SHH PTCH1
10	holoprosencephaly 11	10.2	SHH PTCH1
11	midline interhemispheric variant of holoprosencephaly	10.2	SHH PTCH1
12	septopreoptic holoprosencephaly	10.2	SHH PTCH1
13	adult medulloblastoma	10.2	SHH PTCH1
14	alobar holoprosencephaly	10.2	SHH PTCH1
15	lobar holoprosencephaly	10.2	SHH PTCH1
16	micronodular basal cell carcinoma	10.2	SHH PTCH1
17	overgrowth syndrome	10.1	PTCH1 NPR2
18	chronic tympanitis	10.1	IHH GDF5
19	sugarman brachydactyly	10.1	IHH GDF5
20	microform holoprosencephaly	10.1	SHH PTCH1
21	brachydactyly, type a1, d	10.1	IHH GDF5
22	joubert syndrome 8	10.1	SHH PTCH1
23	brachydactyly, type a4	10.1	IHH GDF5
24	fibroepithelial basal cell carcinoma	10.1	PTCH1 GLI1
25	brachydactyly, type a1, c	10.1	IHH GDF5
26	pericytoma with t(7;12)	10.1	PTCH1 GLI1
27	penis carcinoma in situ	10.1	PTCH1 GLI1
28	basosquamous carcinoma	10.1	PTCH1 GLI1
29	trachea leiomyoma	10.1	SHH GLI1
30	holoprosencephaly 9	10.1	SHH GLI3
31	semilobar holoprosencephaly	10.1	SHH PTCH1
32	brachydactyly, type b1	10.1	IHH GDF5
33	solitary median maxillary central incisor	10.1	SHH PTCH1
34	acromesomelic dysplasia 2c	10.0	NPR2 GDF5
35	tibia, hypoplasia or aplasia of, with polydactyly	10.0	SHH GLI3
36	syndactyly, type iv	10.0	SHH GLI3
37	acromesomelic dysplasia 2a	10.0	NPR2 GDF5
38	skin tag	10.0	PTCH1 GLI3
39	desmoplastic nodular medulloblastoma	10.0	SHH PTCH1 GLI1
40	culler-jones syndrome	10.0	SHH IHH GLI3
41	cerebellar medulloblastoma	10.0	SHH PTCH1 GLI1
42	cerebellum cancer	10.0	SHH PTCH1 GLI1
43	laurin-sandrow syndrome	10.0	SHH IHH GLI3
44	childhood medulloblastoma	10.0	SHH PTCH1 GLI1
45	skeletal muscle cancer	10.0	SHH PTCH1 GLI1
46	reading disorder	10.0
47	atypical teratoid rhabdoid tumor	10.0	SHH PTCH1 GLI1
48	cartilage disease	10.0	IHH GDF5
49	acromesomelic dysplasia 2b	10.0	NPR2 GDF5
50	holoprosencephaly 3	10.0	SHH PTCH1 GLI3

Graphical network of the top 20 diseases related to Acrocapitofemoral Dysplasia:

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Symptoms & Phenotypes for Acrocapitofemoral Dysplasia

Human phenotypes related to Acrocapitofemoral Dysplasia:

⁵⁸ ³⁰ (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	skeletal dysplasia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002652
2	delayed skeletal maturation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002750
3	short stature ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004322
4	micromelia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002983
5	coxa vara ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002812
6	short palm ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004279
7	hyperlordosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003307
8	ovoid vertebral bodies ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003300
9	genu varum ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002970
10	broad nail ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001821
11	small nail ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001792
12	cone-shaped metacarpal epiphyses ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0006059
13	flared iliac wing ³⁰	Frequent (33%)		HP:0002869
14	macrocephaly ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000256
15	scoliosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002650
16	pectus carinatum ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000768
17	short thorax ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010306
18	pectus excavatum ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000767
19	narrow chest ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000774
20	enlargement of the distal femoral epiphysis ³⁰			HP:0006438
21	brachydactyly ³⁰			HP:0001156
22	short distal phalanx of finger ³⁰			HP:0009882
23	short metacarpal ³⁰			HP:0010049
24	hypoplasia of the ulna ³⁰			HP:0003022
25	cone-shaped epiphysis ⁵⁸		Very frequent (99-80%)
26	lumbar hyperlordosis ³⁰			HP:0002938
27	disproportionate short-limb short stature ³⁰			HP:0008873
28	hypoplasia of the radius ³⁰			HP:0002984
29	relative macrocephaly ³⁰			HP:0004482
30	disproportionate short stature ³⁰			HP:0003498
31	short tibia ³⁰			HP:0005736
32	short humerus ³⁰			HP:0005792
33	flared iliac wings ⁵⁸		Frequent (79-30%)
34	short ribs ³⁰			HP:0000773
35	short femur ³⁰			HP:0003097
36	hypoplastic iliac wing ³⁰			HP:0002866
37	abnormality of the femoral neck ⁵⁸		Very frequent (99-80%)
38	short femoral neck ³⁰			HP:0100864
39	delayed ossification of carpal bones ³⁰			HP:0001216
40	short proximal phalanx of finger ³⁰			HP:0010241
41	dysplasia of the femoral head ³⁰			HP:0010575
42	fibular overgrowth ³⁰			HP:0003099
43	cupped ribs ³⁰			HP:0000887
44	short proximal phalanx of thumb ³⁰			HP:0009638
45	small finger ³⁰			HP:0030033
46	cone-shaped capital femoral epiphysis ³⁰			HP:0008789
47	cone-shaped epiphysis of the 1st metacarpal ³⁰			HP:0010017

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
rib cupping

Skeletal Hands:
brachydactyly
short hands
delayed carpal bone age
cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)
short middle and distal phalanges

Skeletal Pelvis:
coxa vara
short femoral neck
cone-shaped epiphyses (proximal femur)
egg-shaped femoral head
short, flared iliac wings

Neurologic Central Nervous System:
normal intelligence

Skin Nails Hair Nails:
broad fingernails
small finger nails

Skeletal Feet:
cone-shaped epiphyses (ankles)

Skeletal Spine:
ovoid vertebral bodies
lumbar hyperlordosis
anterior notching of vertebral bodies

Skeletal Limbs:
genu varum
short limbs
cone-shaped epiphyses (proximal and distal tibia)
varus deformity (humeral head)
large distal femoral epiphyses

Growth Height:
normal birth length
short-limbed dwarfism
short stature, disproportionate

Chest External Features:
narrow thorax

Head And Neck Head:
relatively large head

Clinical features from OMIM®:

607778 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Acrocapitofemoral Dysplasia:

⁴⁵ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.22	BOC GDF5 GLI1 GLI3 HHIP IHH
2	nervous system	MP:0003631	10.21	BOC DHH GLI1 GLI3 HHIP IHH
3	limbs/digits/tail	MP:0005371	10.15	BOC GDF5 GLI1 GLI3 IHH NPPC
4	endocrine/exocrine gland	MP:0005379	10.11	DHH GLI1 GLI3 HHIP IHH NPPC
5	digestive/alimentary	MP:0005381	10.06	BOC DHH GLI1 GLI3 HHIP IHH
6	craniofacial	MP:0005382	10.02	BOC GLI1 GLI3 HHIP IHH NPPC
7	no phenotypic analysis	MP:0003012	10	GLI1 GLI3 IHH NPR2 PTCH1 SHH
8	embryo	MP:0005380	9.98	GDF5 GLI1 GLI3 HHIP IHH PTCH1
9	respiratory system	MP:0005388	9.92	BOC GLI1 GLI3 HHIP IHH NPR2
10	reproductive system	MP:0005389	9.86	DHH GDF5 GLI1 GLI3 NPPC NPR2
11	skeleton	MP:0005390	9.81	BOC GDF5 GLI1 GLI3 IHH NPPC
12	mortality/aging	MP:0010768	9.36	BOC GDF5 GLI1 GLI3 HHIP IHH
13	taste/olfaction	MP:0005394	9.13	GLI3 PTCH1 SHH

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Drugs & Therapeutics for Acrocapitofemoral Dysplasia

Search Clinical Trials, NIH Clinical Center for Acrocapitofemoral Dysplasia

Cochrane evidence based reviews: acrocapitofemoral dysplasia

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Genetic Tests for Acrocapitofemoral Dysplasia

Genetic tests related to Acrocapitofemoral Dysplasia:

#	Genetic test	Affiliating Genes
1	Acrocapitofemoral Dysplasia ²⁸	IHH

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Anatomical Context for Acrocapitofemoral Dysplasia

Organs/tissues related to Acrocapitofemoral Dysplasia:

MalaCards : Bone, Heart

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Publications for Acrocapitofemoral Dysplasia

Articles related to Acrocapitofemoral Dysplasia:

(show all 38)

#	Title	Authors	PMID	Year
1	Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. ⁶² ⁵⁷ ⁵	Hellemans J...Mortier GR	12632327	2003
2	Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease. ⁶² ⁵⁷	Ozyavuz Cubuk P...Duz MB	34530144	2021
3	Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips. ⁶² ⁵⁷	Mortier GR...Beemer FA	12624140	2003
4	SAG therapy restores bone growth and reduces enchondroma incidence in a model of skeletal chondrodysplasias caused by Ihh deficiency. ⁶²	Li X...Yang S	34820473	2021
5	Toward chemical accuracy at low computational cost: Density-functional theory with σ-functionals for the correlation energy. ⁶²	Trushin E...Gorling A	33412877	2021
6	Lieb-Oxford bound and pair correlation functions for density-functional methods based on the adiabatic-connection fluctuation-dissipation theorem. ⁶²	Erhard J...Gorling A	32935700	2020
7	The compatibility effects of sini decoction against doxorubicin-induced heart failure in rats revealed by mass spectrometry-based serum metabolite profiling and computational analysis. ⁶²	Zhou Q...Tan G	32006632	2020
8	Enhanced "contact mechanism" for interaction of extracellular polymeric substances with low-grade copper-bearing sulfide ore in bioleaching by moderately thermophilic Acidithiobacillus caldus. ⁶²	Huang Z...Yang H	31026798	2019
9	Simultaneous Attenuation of Both Self-Interaction Error and Nondynamic Correlation Error in Density Functional Theory: A Spin-Pair Distinctive Adiabatic-Connection Approximation. ⁶²	Zhang IY...Xu X	31046289	2019
10	Association of Canadian Faculties of Dentistry Educational Framework for the Development of Competency in Dental Programs. ⁶²	Charbonneau A...Dagenais M	30936212	2019
11	Comparing Practice Management Courses in Canadian Dental Schools. ⁶²	Schonwetter DJ...Schwartz B	29717074	2018
12	First-Principles Models for van der Waals Interactions in Molecules and Materials: Concepts, Theory, and Applications. ⁶²	Hermann J...Tkatchenko A	28272886	2017
13	Accurate Intermolecular Potential for the C60 Dimer: The Performance of Different Levels of Quantum Theory. ⁶²	Sharapa DI...Clark T	27959551	2017
14	Power Series Approximation for the Correlation Kernel Leading to Kohn-Sham Methods Combining Accuracy, Computational Efficiency, and General Applicability. ⁶²	Erhard J...Gorling A	27740821	2016
15	Molecular and Genomic Characterization of Vibrio mimicus Isolated from a Frozen Shrimp Processing Facility in Mexico. ⁶²	Guardiola-Avila I...Noriega-Orozco L	26730584	2016
16	Self-consistent Kohn-Sham method based on the adiabatic-connection fluctuation-dissipation theorem and the exact-exchange kernel. ⁶²	Bleiziffer P...Gorling A	26133411	2015
17	Stability conditions for exact-exchange Kohn-Sham methods and their relation to correlation energies from the adiabatic-connection fluctuation-dissipation theorem. ⁶²	Bleiziffer P...Gorling A	25429933	2014
18	Bicarbonate increases binding affinity of Vibrio cholerae ToxT to virulence gene promoters. ⁶²	Thomson JJ...Withey JH	25182489	2014
19	Grimontia indica AK16(T), sp. nov., isolated from a seawater sample reports the presence of pathogenic genes similar to Vibrio genus. ⁶²	Singh A...Pinnaka AK	24465608	2014
20	On the Short-Range Behavior of Correlated Pair Functions from the Adiabatic-Connection Fluctuation-Dissipation Theorem of Density-Functional Theory. ⁶²	He?elmann A...Gorling A	26589155	2013
21	Interatomic methods for the dispersion energy derived from the adiabatic connection fluctuation-dissipation theorem. ⁶²	Tkatchenko A...DiStasio RA	23444996	2013
22	Electron affinities and ionisation potentials for atoms via "benchmark" tdDFT calculations with and without exchange kernels. ⁶²	Gould T...Dobson JF	23298030	2013
23	Communication: Beyond the random phase approximation on the cheap: improved correlation energies with the efficient "radial exchange hole" kernel. ⁶²	Gould T	22998242	2012
24	Poster - Thur Eve - 07: CNSC Update: "What's New in Class II". ⁶²	Heimann M	28516523	2012
25	Assessing graduating dental students' competencies: the impact of classroom, clinic and externships learning experiences. ⁶²	Schonwetter DJ...Nazarko O	21762318	2011
26	Stand-alone cervical polyetheretherketone (PEEK) cage (cervios) for single to two-level degenerative disc disease. ⁶²	Iampreechakul P...Tirakotai W	21534365	2011
27	Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. ⁶²	Byrnes AM...Bulman DE	19277064	2009
28	Importation of the major pilin TcpA gene and frequent recombination drive the divergence of the Vibrio pathogenicity island in Vibrio cholerae. ⁶²	Tay CY...Lan R	19054108	2008
29	Use of resorbable implants for symptomatic cervical spondylosis: experience on 16 consecutive patients. ⁶²	Franco A...Torelli G	18176526	2007
30	The toxbox: specific DNA sequence requirements for activation of Vibrio cholerae virulence genes by ToxT. ⁶²	Withey JH...DiRita VJ	16553883	2006
31	Vibrio cholerae ToxT independently activates the divergently transcribed aldA and tagA genes. ⁶²	Withey JH...Dirita VJ	16291662	2005
32	Activation of both acfA and acfD transcription by Vibrio cholerae ToxT requires binding to two centrally located DNA sites in an inverted repeat conformation. ⁶²	Withey JH...DiRita VJ	15853890	2005
33	Serum total and lipid-bound sialic acid levels following acute myocardial infarction. ⁶²	Gokmen SS...Gulen S	11205689	2000
34	Sequence analysis of the Vibrio cholerae acfD gene reveals the presence of an overlapping reading frame, orfZ, which encodes a protein that shares sequence similarity to the FliA and FliC products of Salmonella. ⁶²	Hughes KJ...Peterson KM	8063108	1994
35	Structural analysis of the acfA and acfD genes of Vibrio cholerae: effects of DNA topology and transcriptional activators on expression. ⁶²	Parsot C...Mekalanos JJ	1644747	1992
36	ToxR regulates the production of lipoproteins and the expression of serum resistance in Vibrio cholerae. ⁶²	Parsot C...Mekalanos JJ	2000374	1991
37	No ostriches in sight. Just an octopus. An ACFD/AFDC position paper pursuant to the manpower and prelicensure conferences. ⁶²		3545398	1987
38	ACFD supports concept of consumer involvement in accreditation process. ⁶²		1058199	1975

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Genes for Acrocapitofemoral Dysplasia

Genes related to Acrocapitofemoral Dysplasia (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	1709.19	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	12632327
2	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	6.08	DISEASES inferred ¹⁴
3	HHIP	Hedgehog Interacting Protein	Protein Coding	5.09	DISEASES inferred ¹⁴
4	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	5.06	DISEASES inferred ¹⁴
5	PTCH1	Patched 1	Protein Coding	5.01	DISEASES inferred ¹⁴
6	NPR2	Natriuretic Peptide Receptor 2	Protein Coding	4.94	DISEASES inferred ¹⁴
7	BOC	BOC Cell Adhesion Associated, Oncogene Regulated	Protein Coding	4.78	DISEASES inferred ¹⁴
8	GLI1	GLI Family Zinc Finger 1	Protein Coding	4.77	DISEASES inferred ¹⁴
9	GDF5	Growth Differentiation Factor 5	Protein Coding	4.77	DISEASES inferred ¹⁴
10	RESP18	Regulated Endocrine Specific Protein 18	Protein Coding	4.69	DISEASES inferred ¹⁴
11	NPPC	Natriuretic Peptide C	Protein Coding	4.56	DISEASES inferred ¹⁴
12	GLI3	GLI Family Zinc Finger 3	Protein Coding	4.49	DISEASES inferred ¹⁴

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Variations for Acrocapitofemoral Dysplasia

ClinVar genetic disease variations for Acrocapitofemoral Dysplasia:

⁵ (show all 12)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	IHH	NM_002181.4(IHH):c.137C>T (p.Pro46Leu)	SNV	Pathogenic	8870	rs121917856	GRCh37: 2:219925053-219925053 GRCh38: 2:219060331-219060331
2	IHH	NM_002181.4(IHH):c.569T>C (p.Val190Ala)	SNV	Pathogenic	8871	rs121917857	GRCh37: 2:219922163-219922163 GRCh38: 2:219057441-219057441
3	IHH	NM_002181.4(IHH):c.352G>A (p.Val118Met)	SNV	Likely Pathogenic	800918	rs1454141074	GRCh37: 2:219922380-219922380 GRCh38: 2:219057658-219057658
4	IHH	NM_002181.4(IHH):c.478C>T (p.Arg160Cys)	SNV	Likely Pathogenic	1217222		GRCh37: 2:219922254-219922254 GRCh38: 2:219057532-219057532
5	IHH	NM_002181.4(IHH):c.1021G>A (p.Glu341Lys)	SNV	Uncertain Significance	1683475		GRCh37: 2:219920144-219920144 GRCh38: 2:219055422-219055422
6	IHH	NM_002181.4(IHH):c.851C>T (p.Thr284Met)	SNV	Uncertain Significance	1683476		GRCh37: 2:219920314-219920314 GRCh38: 2:219055592-219055592
7	IHH	NM_002181.4(IHH):c.217C>T (p.Arg73Cys)	SNV	Uncertain Significance	1691308		GRCh37: 2:219924973-219924973 GRCh38: 2:219060251-219060251
8	IHH	NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)	INDEL	Uncertain Significance	800998	rs1574689480	GRCh37: 2:219925112-219925137 GRCh38: 2:219060390-219060415
9	IHH	NM_002181.4(IHH):c.88C>A (p.Pro30Thr)	SNV	Uncertain Significance	1030530	rs1574689457	GRCh37: 2:219925102-219925102 GRCh38: 2:219060380-219060380
10	IHH	NM_002181.4(IHH):c.753T>C (p.Pro251=)	SNV	Benign	334440	rs3731881	GRCh37: 2:219920412-219920412 GRCh38: 2:219055690-219055690
11	IHH	NM_002181.4(IHH):c.600G>A (p.Thr200=)	SNV	Benign	334443	rs3731878	GRCh37: 2:219920565-219920565 GRCh38: 2:219055843-219055843
12	IHH	NM_002181.4(IHH):c.1128T>C (p.Thr376=)	SNV	Benign	593247	rs394452	GRCh37: 2:219920037-219920037 GRCh38: 2:219055315-219055315

UniProtKB/Swiss-Prot genetic disease variations for Acrocapitofemoral Dysplasia:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	IHH	p.Pro46Leu	VAR_015981	rs121917856
2	IHH	p.Val190Ala	VAR_015986	rs121917857

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Expression for Acrocapitofemoral Dysplasia

Search GEO for disease gene expression data for Acrocapitofemoral Dysplasia.

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Pathways for Acrocapitofemoral Dysplasia

Pathways related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.49	SHH PTCH1 IHH HHIP GLI3 GLI1
2	ADORA2B mediated anti-inflammatory cytokines production ⁶⁶ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ Androgen receptor signaling pathway ⁷⁴ Anti-inflammatory response favouring Leishmania parasite infection ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ CD163 mediating an anti-inflammatory response ⁶⁶ Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² G alpha (z) signalling events ⁶⁶ G protein signaling pathways ⁷⁴ Glucagon signaling in metabolic regulation ⁶⁶ GPER1 signaling ⁶⁶ Hedgehog Signaling in Mammals ⁶⁴ Leishmania infection ⁶⁶ Leishmania parasite growth and survival ⁶⁶ LTC4-CYSLTR mediated IL4 production ⁶⁶ Relaxin Pathway ⁶⁴ Signal transduction cAMP signaling ²²	13.01	PTCH1 NPR2 IHH GLI1 DHH
3	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.43	GLI1 GLI3 NPR2 PTCH1
4	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.22	SHH PTCH1 IHH DHH
5	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.18	BOC DHH GLI1 GLI3 HHIP IHH
6	Wnt / Hedgehog / Notch ³	12.02	SHH PTCH1 GLI1
7	Ectoderm differentiation ⁷⁴	11.9	SHH GLI3 BOC
8	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.83	PTCH1 IHH GLI3
9	Osteoblast differentiation and related diseases ⁷⁴	11.47	PTCH1 IHH GLI3
10	Development of ureteric collection system ⁷⁴	11.29	GLI1 GLI3 SHH
11	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.21	SHH PTCH1 IHH GLI1
12	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	11.14	PTCH1 GLI3 GLI1
13	Hedgehog signaling events mediated by Gli proteins ⁶¹	11.14	SHH PTCH1 GLI3 GLI1
14	Dopaminergic neurogenesis ⁷⁴	11.08	SHH GLI1
15	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	11.06	SHH PTCH1 IHH HHIP GLI3 DHH
16	FGFR3 signaling in chondrocyte proliferation and terminal differentiation ⁷⁴	11.02	NPR2 IHH
17	Hair follicle development: organogenesis - part 2 of 3 ⁷⁴	10.98	SHH PTCH1 GLI1
18	Hedgehog signaling pathway ⁷⁴	10.85	SHH PTCH1 IHH HHIP GLI3 GLI1
19	EDA signaling in hair follicle development ⁷⁴	10.59	SHH PTCH1 GLI1
20	Tgif disruption of Shh signaling ⁷⁴ Show member pathways mir34a and TGIF2 in osteoclastogenesis ⁷⁴	10.54	SHH GLI3
21	Glypican 3 network ⁶¹	10.43	SHH PTCH1

Sources

GO Terms for Acrocapitofemoral Dysplasia

Cellular components related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GLI-SUFU complex	GO:1990788	8.92	GLI3 GLI1

Biological processes related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

(show top 50) (show all 66)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell signaling	GO:0007267	10.29	SHH IHH GDF5 DHH
2	regulation of gene expression	GO:0010468	10.27	SHH IHH GLI3 DHH
3	spermatid development	GO:0007286	10.2	PTCH1 GLI1 DHH
4	lung development	GO:0030324	10.2	SHH GLI3 GLI1
5	response to estradiol	GO:0032355	10.19	PTCH1 IHH DHH
6	osteoblast differentiation	GO:0001649	10.19	DHH GLI1 GLI3 IHH
7	response to mechanical stimulus	GO:0009612	10.16	PTCH1 IHH GDF5
8	embryonic digit morphogenesis	GO:0042733	10.14	SHH IHH GLI3
9	stem cell proliferation	GO:0072089	10.14	GLI3 PTCH1 SHH
10	branching involved in ureteric bud morphogenesis	GO:0001658	10.13	SHH PTCH1 GLI3
11	ossification	GO:0001503	10.12	IHH NPPC NPR2
12	neuroblast proliferation	GO:0007405	10.1	SHH HHIP GLI3
13	cell fate specification	GO:0001708	10.08	SHH IHH DHH
14	chondrocyte differentiation	GO:0002062	10.07	GDF5 GLI3 IHH
15	liver regeneration	GO:0097421	10.05	PTCH1 IHH GLI1
16	negative regulation of stem cell proliferation	GO:2000647	10.04	PTCH1 GLI3
17	limb morphogenesis	GO:0035108	10.04	PTCH1 GLI3
18	protein autoprocessing	GO:0016540	10.04	SHH IHH DHH
19	positive regulation of chondrocyte differentiation	GO:0032332	10.03	GLI3 GDF5
20	negative regulation of smoothened signaling pathway	GO:0045879	10.03	GLI3 HHIP PTCH1
21	dorsal/ventral neural tube patterning	GO:0021904	10.02	SHH PTCH1
22	cGMP biosynthetic process	GO:0006182	10.01	NPPC NPR2
23	positive regulation of T cell differentiation in thymus	GO:0033089	10.01	IHH SHH
24	negative thymic T cell selection	GO:0045060	10.01	GLI3 SHH
25	negative regulation of chondrocyte differentiation	GO:0032331	10.01	IHH GLI3 GDF5
26	receptor guanylyl cyclase signaling pathway	GO:0007168	10	NPPC NPR2
27	artery development	GO:0060840	10	GLI3 SHH
28	metanephric collecting duct development	GO:0072205	10	PTCH1 SHH
29	mesenchymal cell apoptotic process	GO:0097152	10	GDF5 SHH
30	alpha-beta T cell differentiation	GO:0046632	9.99	SHH GLI3
31	hindlimb morphogenesis	GO:0035137	9.99	PTCH1 GDF5
32	embryonic digestive tract morphogenesis	GO:0048557	9.99	GLI3 IHH SHH
33	positive regulation of cGMP-mediated signaling	GO:0010753	9.98	NPR2 NPPC
34	camera-type eye development	GO:0043010	9.97	GLI3 IHH SHH
35	negative regulation of mesenchymal cell apoptotic process	GO:2001054	9.97	SHH GDF5
36	negative regulation of T cell differentiation in thymus	GO:0033085	9.97	SHH IHH
37	somite development	GO:0061053	9.97	SHH PTCH1 IHH
38	negative regulation of hh target transcription factor activity	GO:1990787	9.96	GLI3 GLI1
39	hindgut morphogenesis	GO:0007442	9.95	GLI3 SHH
40	smooth muscle tissue development	GO:0048745	9.95	SHH PTCH1 IHH
41	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	GO:0021938	9.94	GLI1 SHH
42	negative regulation of oocyte maturation	GO:1900194	9.93	NPPC NPR2
43	embryonic organ development	GO:0048568	9.93	SHH PTCH1 GLI3
44	prostate gland development	GO:0030850	9.93	GLI1 PTCH1 SHH
45	cell differentiation involved in kidney development	GO:0061005	9.92	PTCH1 GLI3
46	spinal cord motor neuron differentiation	GO:0021522	9.92	SHH PTCH1 GLI3
47	epithelial tube branching involved in lung morphogenesis	GO:0060441	9.91	SHH HHIP
48	negative regulation of meiotic cell cycle	GO:0051447	9.91	NPR2 NPPC
49	ventral midline development	GO:0007418	9.91	SHH GLI1
50	self proteolysis	GO:0097264	9.91	SHH IHH DHH

Molecular functions related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hedgehog family protein binding	GO:0097108	9.46	PTCH1 HHIP
2	cholesterol-protein transferase activity	GO:0140853	9.43	SHH IHH DHH
3	patched binding	GO:0005113	9.23	SHH PTCH1 IHH DHH

Sources

Sources for Acrocapitofemoral Dysplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ACFD MCID: ACR002 MIFTS: 51	Acrocapitofemoral Dysplasia (ACFD) Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Acrocapitofemoral Dysplasia (ACFD)

Aliases & Classifications for Acrocapitofemoral Dysplasia

MalaCards integrated aliases for Acrocapitofemoral Dysplasia:

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Inheritance:

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OMIM®:

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Summaries for Acrocapitofemoral Dysplasia

Related Diseases for Acrocapitofemoral Dysplasia

Diseases related to Acrocapitofemoral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Acrocapitofemoral Dysplasia:

Symptoms & Phenotypes for Acrocapitofemoral Dysplasia

Human phenotypes related to Acrocapitofemoral Dysplasia:

Symptoms via clinical synopsis from OMIM®:

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Drugs & Therapeutics for Acrocapitofemoral Dysplasia

Cochrane evidence based reviews: acrocapitofemoral dysplasia

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ClinVar genetic disease variations for Acrocapitofemoral Dysplasia:

UniProtKB/Swiss-Prot genetic disease variations for Acrocapitofemoral Dysplasia:

Expression for Acrocapitofemoral Dysplasia

Pathways for Acrocapitofemoral Dysplasia

Pathways related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

GO Terms for Acrocapitofemoral Dysplasia

Cellular components related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

Biological processes related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

Molecular functions related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

Sources for Acrocapitofemoral Dysplasia