Autoimmunity, and Genu valgum

Diseases related with Autoimmunity and Genu valgum

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


Top matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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Other less relevant matches:

Low match AROMATASE DEFICIENCY


Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

AROMATASE DEFICIENCY Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency

Related symptoms:

  • Growth delay
  • Pain
  • Cryptorchidism
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE DEFICIENCY

Low match ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1


Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Low match OROFACIODIGITAL SYNDROME XVIII; OFD18


Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

OROFACIODIGITAL SYNDROME XVIII; OFD18 Is also known as ofds xviii|oral-facial-digital syndrome, type xviii

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Brachydactyly
  • Wide nasal bridge
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVIII; OFD18

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2


OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Low match FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION


17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.

FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION Is also known as hereditary clubfoot due to 17q23.1-q23.2 microduplication

Related symptoms:

  • Short stature
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Genu valgum
  • Hip dysplasia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION

Low match POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8


Postaxial polydactyly type 8A is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017).For a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.

Related symptoms:

  • Short stature
  • Atrial septal defect
  • Polydactyly
  • Genu valgum
  • Postaxial polydactyly


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2


Related symptoms:

  • Carious teeth
  • Pulmonic stenosis
  • Genu valgum
  • Genu varum
  • Hyperphosphaturia


SOURCES: MESH OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2

Top 5 symptoms//phenotypes associated to Autoimmunity and Genu valgum

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Genu valgum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Carious teeth Hepatosplenomegaly Polydactyly Hypertelorism Growth delay

Rare Symptoms - Less than 30% cases


Abnormality of the dentition Depressed nasal bridge Visual impairment Delayed speech and language development Growth abnormality Anemia Cranial hyperostosis Abnormal facial shape Bowing of the legs Genu varum Delayed skeletal maturation Postaxial polydactyly Hepatomegaly Mandibular prognathia Global developmental delay Abnormality of the skeletal system Intellectual disability, severe Optic atrophy Generalized hirsutism Recurrent pneumonia Low anterior hairline Depressed nasal ridge Hirsutism Papule Hypophosphatemic rickets Prominent forehead Hydrocephalus Recurrent respiratory infections Obesity Thrombocytopenia Recurrent infections Abnormal lung morphology Splenomegaly Intellectual disability, mild Coxa vara Osteopenia Osteomyelitis Respiratory distress Broad forehead Pectus carinatum Respiratory tract infection Tall stature Arthritis Hernia Midface retrusion Kyphosis Congestive heart failure Short neck Type II diabetes mellitus Gait disturbance Myopia Hypertension Cataract Muscular hypotonia Muscle weakness Sensorineural hearing impairment Nystagmus Scoliosis Generalized hypotonia Pancytopenia Skeletal dysplasia Hip dysplasia Retinal degeneration Neurodevelopmental delay Flattened moderately deformed vertebrae Osteoporosis Cryptorchidism Spinocerebellar tract disease in lower limbs Impaired smooth pursuit Dysostosis multiplex Synovial hypertrophy Diabetes mellitus Progressive joint destruction Increased intracranial pressure Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Hypogonadism Hepatic steatosis Infertility Insulin resistance Acanthosis nigricans Hyperlipidemia Hypergonadotropic hypogonadism Bone pain Severe sensorineural hearing impairment Patellar dislocation Bronchitis Thickened calvaria Primary amenorrhea Epidermal acanthosis Abnormality of the cardiovascular system Amenorrhea Postural instability Delusions Hydrocele testis Reduced ejection fraction Abnormality of the ilium Abnormal echocardiogram Clitoral hypertrophy Abnormality of the gingiva Long ear Bowel incontinence Retinal thinning Cerebral dysmyelination Synostosis of joints Oligosacchariduria Spondylolysis Open bite Increased vertebral height Thoracolumbar kyphosis Flat occiput Increased hepatic glycogen content Heart murmur Vacuolated lymphocytes Synovitis Abnormal cornea morphology Generalized abnormality of skin Aseptic necrosis Chronic otitis media Decreased pulmonary function Prominent supraorbital ridges Abnormality of the rib cage Craniofacial hyperostosis Femoral bowing Hypoplastic inferior ilia Spondylolisthesis Abnormality of the helix Abnormality of the sternum Limb dystonia Pericardial effusion Acne Diastema Blindness Seizures Agenesis of incisor Small forehead Square face Accessory oral frenulum Cervical ribs Median cleft lip Increased bone mineral density Slender long bone Short femoral neck Short middle phalanx of finger Preaxial polydactyly Drooling Sandal gap Abnormal vertebral morphology Recurrent fractures Bone marrow hypocellularity Short distal phalanx of finger Hypoplastic toenails Hyperphosphaturia Pulmonic stenosis Bilateral postaxial polydactyly Nail dysplasia Atrial septal defect Acetabular dysplasia Mild short stature Coxa valga Hypocalcemia Small nail Chronic rhinitis due to narrow nasal airway Mandibular osteomyelitis Diaphyseal sclerosis Persistence of primary teeth Extramedullary hematopoiesis Facial paralysis Osteopetrosis Urinary incontinence Prominent nasal bridge Bilateral cryptorchidism Macroorchidism, postpubertal Myocardial infarction Ventricular hypertrophy Cyanosis Conductive hearing impairment Pneumonia Failure to thrive Maternal virilization in pregnancy Female infertility Glomerulosclerosis Female pseudohermaphroditism Eunuchoid habitus Ambiguous genitalia, female Enlarged polycystic ovaries Ovarian cyst Macroorchidism Delayed epiphyseal ossification Male infertility Left ventricular hypertrophy Rickets Short philtrum Arterial calcification Cleft lip Upslanted palpebral fissure Wide nasal bridge Brachydactyly Periarticular calcification Coronary artery calcification Generalized arterial calcification Vascular calcification Hypophosphatemia Coronary artery stenosis Angioid streaks of the fundus Arteriosclerosis Otosclerosis Arterial stenosis Endocardial fibroelastosis Ankylosis Recurrent bacterial infections Widely spaced teeth Coarse facial features Narrow palate Micrognathia Short nose Diarrhea Vomiting Downslanted palpebral fissures High palate Ptosis Delayed calcaneal ossification Hyperkeratosis Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Abnormality of metabolism/homeostasis Proptosis Limited elbow movement Convex nasal ridge Abnormality of retinal pigmentation Thin skin Inflammatory abnormality of the skin Cutaneous photosensitivity Low posterior hairline Hepatitis Dehydration Asthma High forehead Palmoplantar keratoderma Dry skin Arachnodactyly Pruritus Skin rash Erythema Elevated hepatic transaminase Flattened epiphysis Myelopathy Skin ulcer Narrow chest Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Paresthesia Micromelia Platyspondyly Limb undergrowth Hip dislocation Hyperlordosis Apnea Glaucoma Severe short stature Cleft palate Waddling gait High myopia Ovoid vertebral bodies Vestibular dysfunction Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Spondyloepiphyseal dysplasia Lumbar hyperlordosis Back pain Sleep apnea Rhizomelia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Osteoarthritis Lymphedema Bilateral single transverse palmar creases Spastic gait Corneal opacity Confusion Dysmetria Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Mental deterioration Highly arched eyebrow Anxiety Umbilical hernia Kyphoscoliosis Macrotia Gait ataxia Babinski sign Inguinal hernia Thick eyebrow Neurodegeneration Depressivity Psychosis Hallucinations Limb ataxia Gingival overgrowth Amblyopia Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Optic disc pallor Macroglossia Peripheral demyelination Otitis media Decreased antibody level in blood Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Areflexia Cerebral atrophy Abnormality of the fingernails Abnormality of the immune system Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Aplasia/Hypoplasia of the skin Facial hirsutism Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Poliosis Crusting erythematous dermatitis Immunodeficiency Dysarthria Behavioral abnormality Cerebellar atrophy Myopathy Ventriculomegaly Frontal bossing Macrocephaly Skeletal muscle atrophy Hyperreflexia Diffuse telangiectasia Epicanthus Motor delay Cognitive impairment Spasticity Strabismus Ataxia Recurrent cystitis Hypoplasia of teeth



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