Anemia, and Clinodactyly

Diseases related with Anemia and Clinodactyly

In the following list you will find some of the most common rare diseases related to Anemia and Clinodactyly that can help you solving undiagnosed cases.


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY


The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Low match RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2


Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015).For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Thrombocytopenia
  • Clinodactyly


SOURCES: OMIM MENDELIAN

More info about RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2

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Other less relevant matches:

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Low match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Low match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Low match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Clinodactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
Finger clinodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Clinodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Intrauterine growth retardation Micrognathia Microcephaly Global developmental delay Delayed speech and language development Sensorineural hearing impairment Strabismus Generalized hypotonia Hypertelorism Neoplasm Cataract Growth delay

Rare Symptoms - Less than 30% cases


Flexion contracture Microcytic anemia Muscular hypotonia Dysphagia Broad forehead Myopia Hypertonia Webbed neck Wide nasal bridge Dental malocclusion Hip dislocation High myopia Short neck Hyperreflexia Cleft palate Downslanted palpebral fissures Chromosome breakage Failure to thrive Congenital cataract Conductive hearing impairment Upslanted palpebral fissure Recurrent respiratory infections Anteverted nares Abnormal facial shape Lymphadenopathy Thin vermilion border Patent ductus arteriosus Aggressive behavior Abnormality of cardiovascular system morphology Proximal placement of thumb Feeding difficulties Dental crowding Elliptocytosis Large forehead Nephrocalcinosis Severe sensorineural hearing impairment Cleft hard palate Seizures Hypercalciuria Mild conductive hearing impairment Broad distal phalanx of finger Patent foramen ovale Mixed hearing impairment Nystagmus Hydronephrosis Renal dysplasia Talipes equinovarus Low anterior hairline Bone marrow hypocellularity Narrow palate Breast carcinoma Ovarian neoplasm Thick upper lip vermilion Stomach cancer Macrodontia Duodenal stenosis Ovarian carcinoma Malar flattening Esotropia Midface retrusion Narrow mouth Pes planus Thin upper lip vermilion Respiratory insufficiency Synophrys Talipes Joint hypermobility Flat face Delayed eruption of teeth Bifid uvula Tremor Visual impairment Cerebral atrophy Smooth philtrum Low-set ears High palate Atrial septal defect Long philtrum Syndactyly Pectus excavatum Inguinal hernia Brachycephaly Osteopenia Developmental regression Wide mouth Craniosynostosis Tapered finger Nuclear cataract Hypodontia Hip dysplasia Low posterior hairline Mitral regurgitation Hypoplasia of dental enamel Preauricular skin tag Hypoparathyroidism Down-sloping shoulders Sparse lateral eyebrow Moderate global developmental delay Long toe Hypochromic anemia Pulverulent cataract Ectopic anus Jaundice Macrotia Elevated hepatic transaminase Apnea Poor speech Single transverse palmar crease Exotropia Progressive microcephaly Infantile spasms Inverted nipples Hypoproteinemia Skin dimples Type I transferrin isoform profile Reduced antithrombin III activity Photophobia Abnormality of the elbow Low-set, posteriorly rotated ears Joint stiffness Severe global developmental delay Anal atresia Convex nasal ridge Hypoplasia of penis Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Iron deficiency anemia Increased serum ferritin Long eyelashes Abnormal nasal morphology Hypopigmentation of the skin Hematuria Spasticity Motor delay Dysarthria Vomiting Behavioral abnormality Dystonia Intellectual disability, mild Renal insufficiency Rigidity Arthritis Irritability Nephropathy Scoliosis Chorea Abnormality of extrapyramidal motor function Choreoathetosis Clumsiness Recurrent urinary tract infections Nephrolithiasis Stereotypy Spastic gait Cerebral palsy Self-injurious behavior Oral-pharyngeal dysphagia Athetosis Pain Amegakaryocytic thrombocytopenia Hyperuricemia Stomatitis Hepatomegaly Splenomegaly Immunodeficiency Recurrent infections Delayed skeletal maturation Respiratory failure Hypoglycemia Postnatal growth retardation Small for gestational age Adrenal insufficiency Recurrent viral infections Lymphoproliferative disorder Thrombocytopenia Limited pronation/supination of forearm Hepatosplenomegaly Neutropenia Pancytopenia Cafe-au-lait spot Aspiration Radioulnar synostosis Short middle phalanx of finger Petechiae Hydrocele testis Overlapping fingers Ecchymosis Congenital thrombocytopenia Opisthotonus Self-mutilation Prominent nasal bridge Breathing dysregulation Clubbing Heart murmur Preauricular pit Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Interrupted aortic arch Increased body weight Right ventricular failure Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Epicanthus Microphthalmia Coarse facial features Carcinoma Sparse hair Blepharophimosis Easy fatigability Sinusitis Gout Respiratory distress Megaloblastic anemia Dyslexia Focal dystonia Testicular atrophy Facial grimacing Hyperuricosuria Excessive purine production Bladder stones Podagra Muscle weakness Brachydactyly Ventricular septal defect Congestive heart failure Hemiparesis Arrhythmia Abnormal heart morphology Proptosis Dyspnea Respiratory tract infection Paralysis Abnormal cardiac septum morphology Dolichocephaly Pulmonic stenosis Cyanosis Tetralogy of Fallot Ventricular hypertrophy Short 2nd finger



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and High, narrow palate, related diseases and genetic alterations Delayed speech and language development and Patent ductus arteriosus, related diseases and genetic alterations Peripheral neuropathy and Atrial fibrillation, related diseases and genetic alterations Sensorineural hearing impairment and Hypopigmentation of the skin, related diseases and genetic alterations Anemia and Thin skin, related diseases and genetic alterations

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